HbVar.1 protEffect HBA2 or HBA1 2(NA1) Val>Gly
HbVar.1 commonName Hb Antananarivo
HbVar.1 ethnic Madagascar
HbVar.1 phenoCommon Hemoglobin variant
HbVar.2 protEffect HBA2 or HBA1 3(NA2) Leu>Arg
HbVar.2 commonName Hb Chongqing
HbVar.2 ethnic Chinese
HbVar.2 phenoCommon Hemoglobin variant
HbVar.3 protEffect HBA2 or HBA1 6(A3) Ala>Asp
HbVar.3 commonName Hb J-Toronto
HbVar.3 ethnic English
HbVar.3 phenoCommon Hemoglobin variant
HbVar.4 protEffect HBA2 or HBA1 6(A3) Ala>Pro
HbVar.4 commonName Hb Karachi
HbVar.4 ethnic Pakistani
HbVar.4 phenoCommon Hemoglobin variant
HbVar.5 protEffect HBA2 or HBA1 7(A4) Asp>Ala
HbVar.5 commonName Hb Sawara
HbVar.5 ethnic Japanese
HbVar.5 phenoCommon Hemoglobin variant
HbVar.6 protEffect HBA2 or HBA1 7(A4) Asp>Asn
HbVar.6 commonName Hb Dunn
HbVar.6 ethnic Black
HbVar.6 ethnic Indian
HbVar.6 ethnic Moroccan
HbVar.6 phenoCommon Hemoglobin variant
HbVar.7 protEffect HBA2 or HBA1 7(A4) Asp>Val
HbVar.7 commonName Hb Ferndown
HbVar.7 ethnic English
HbVar.7 phenoCommon Hemoglobin variant
HbVar.8 protEffect HBA2 or HBA1 7(A4) Asp>Tyr
HbVar.8 commonName Hb Woodville
HbVar.8 ethnic Vietnamese
HbVar.8 phenoCommon Hemoglobin variant
HbVar.9 protEffect HBA2 or HBA1 7(A4) Asp>Gly
HbVar.9 commonName Hb Swan River
HbVar.9 ethnic Yugoslavian
HbVar.9 ethnic Caucasian
HbVar.9 ethnic Japanese
HbVar.9 phenoCommon Hemoglobin variant
HbVar.10 protEffect HBA2 or HBA1 8(A5) Lys>Asn
HbVar.10 commonName Hb Tatras
HbVar.10 ethnic Czech
HbVar.10 phenoCommon Hemoglobin variant
HbVar.11 protEffect HBA2 or HBA1 8(A5) Lys>Glu
HbVar.11 commonName Hb Kurosaki
HbVar.11 ethnic Japanese
HbVar.11 phenoCommon Hemoglobin variant
HbVar.12 protEffect HBA2 or HBA1 12(A9) Lys>Glu
HbVar.12 commonName Hb Anantharaj
HbVar.12 phenoCommon Hemoglobin variant
HbVar.13 protEffect HBA2 or HBA1 12(A9) Lys>Gln
HbVar.13 commonName Hb J-Wenchang-Wuming
HbVar.13 ethnic Chinese
HbVar.13 phenoCommon Hemoglobin variant
HbVar.14 protEffect HBA2 or HBA1 12(A9) Lys>Asn
HbVar.14 commonName Hb Albany-Suma
HbVar.14 ethnic Black
HbVar.14 phenoCommon Hemoglobin variant
HbVar.15 protEffect HBA2 or HBA1 13(A10) Ala>Asp
HbVar.15 commonName Hb J-Paris-I
HbVar.15 alias Hb J-Aljezur
HbVar.15 ethnic Spanish
HbVar.15 ethnic Portuguese
HbVar.15 ethnic Iranian
HbVar.15 ethnic Yugoslavian
HbVar.15 ethnic Punjabi
HbVar.15 phenoCommon Hemoglobin variant
HbVar.16 protEffect HBA2 or HBA1 15(A12) Trp>Arg
HbVar.16 commonName Hb Evanston
HbVar.16 alias Codon 14 (T->A); TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)] alpha-Thal-1
HbVar.16 ethnic Black
HbVar.16 phenoCommon Thalassemia
HbVar.17 protEffect HBA1 16(A13) Gly>Asp
HbVar.17 commonName Hb I-Interlaken
HbVar.17 alias Hb J-Oxford
HbVar.17 alias Hb N-Cosenza
HbVar.17 ethnic English
HbVar.17 ethnic Italian
HbVar.17 phenoCommon Hemoglobin variant
HbVar.18 protEffect HBA2 or HBA1 16(A13) Gly>Arg
HbVar.18 commonName Hb Ottawa
HbVar.18 alias Hb Siam
HbVar.18 ethnic Canadian
HbVar.18 ethnic Chinese
HbVar.18 ethnic Polish
HbVar.18 phenoCommon Hemoglobin variant
HbVar.19 protEffect HBA2 17(A14) Lys>Glu
HbVar.19 commonName Hb I
HbVar.19 alias Hb I-Philadelphia
HbVar.19 alias Hb I-Texas
HbVar.19 alias Hb I-Burlington
HbVar.19 alias Hb I-Skamania
HbVar.19 ethnic Australian
HbVar.19 ethnic Black
HbVar.19 ethnic Caucasian
HbVar.19 ethnic Indian
HbVar.19 ethnic Japanese
HbVar.19 phenoCommon Hemoglobin variant
HbVar.20 protEffect HBA2 or HBA1 17(A14) Lys>Asn
HbVar.20 commonName Hb Beijing
HbVar.20 ethnic Chinese
HbVar.20 phenoCommon Hemoglobin variant
HbVar.21 protEffect HBA2 or HBA1 17(A14) Lys>Met
HbVar.21 commonName Hb Harbin
HbVar.21 ethnic Chinese
HbVar.21 phenoCommon Hemoglobin variant
HbVar.22 protEffect HBA2 or HBA1 19(A16) Gly>Arg
HbVar.22 commonName Hb Handsworth
HbVar.22 ethnic Indian
HbVar.22 ethnic Chinese
HbVar.22 ethnic Saudi Arabian
HbVar.22 phenoCommon Hemoglobin variant
HbVar.23 protEffect HBA2 or HBA1 19(A16) Gly>Asp
HbVar.23 commonName Hb Al-Ain Abu Dhabi
HbVar.23 ethnic United Arab Emirates
HbVar.23 phenoCommon Hemoglobin variant
HbVar.24 protEffect HBA2 or HBA1 20(AB1) Ala>Asp
HbVar.24 commonName Hb J-Kurosh
HbVar.24 ethnic Iranian
HbVar.24 phenoCommon Hemoglobin variant
HbVar.25 protEffect HBA2 or HBA1 20(AB1) Ala>Glu
HbVar.25 commonName Hb J-Tashikuergan
HbVar.25 ethnic Tajike
HbVar.25 ethnic Afghan
HbVar.25 phenoCommon Hemoglobin variant
HbVar.26 protEffect HBA2 or HBA1 21(B1) His>Tyr
HbVar.26 commonName Hb Necker Enfants-Malades
HbVar.26 ethnic French West Indies
HbVar.26 phenoCommon Hemoglobin variant
HbVar.27 protEffect HBA2 21(B1) His>Gln
HbVar.27 commonName Hb Le Lamentin
HbVar.27 ethnic English
HbVar.27 ethnic French West Indies
HbVar.27 ethnic Japanese
HbVar.27 ethnic Spanish
HbVar.27 phenoCommon Hemoglobin variant
HbVar.28 protEffect HBA2 or HBA1 21(B1) His>Arg
HbVar.28 commonName Hb Hobart
HbVar.28 ethnic English
HbVar.28 phenoCommon Hemoglobin variant
HbVar.29 protEffect HBA2 or HBA1 22(B2) Ala>Asp
HbVar.29 commonName Hb J-Nyanza
HbVar.29 ethnic Western Kenyan
HbVar.29 phenoCommon Hemoglobin variant
HbVar.30 protEffect HBA2 or HBA1 22(B2) Ala>Pro
HbVar.30 commonName Hb Fontainebleau
HbVar.30 ethnic Italian
HbVar.30 phenoCommon Hemoglobin variant
HbVar.31 protEffect HBA2 or HBA1 23(B3) Gly>Asp
HbVar.31 commonName Hb J-Medellin
HbVar.31 ethnic Colombian
HbVar.31 phenoCommon Hemoglobin variant
HbVar.32 protEffect HBA2 or HBA1 24(B4) Glu>Gln
HbVar.32 commonName Hb Memphis
HbVar.32 ethnic Black
HbVar.32 phenoCommon Hemoglobin variant
HbVar.33 protEffect HBA2 or HBA1 24(B4) Glu>Lys
HbVar.33 commonName Hb Chad
HbVar.33 alias Hb E-Keelung
HbVar.33 ethnic Black
HbVar.33 ethnic Chinese
HbVar.33 ethnic Japanese
HbVar.33 phenoCommon Hemoglobin variant
HbVar.34 protEffect HBA2 or HBA1 24(B4) Glu>Val
HbVar.34 commonName Hb G-Audhali
HbVar.34 ethnic Black
HbVar.34 phenoCommon Hemoglobin variant
HbVar.35 protEffect HBA2 or HBA1 24(B4) Glu>Gly
HbVar.35 commonName Hb Reims
HbVar.35 ethnic French
HbVar.35 phenoCommon Hemoglobin variant
HbVar.36 protEffect HBA2 or HBA1 24(B4) Glu>Asp
HbVar.36 commonName Hb Lisbon
HbVar.36 ethnic Portuguese
HbVar.36 phenoCommon Hemoglobin variant
HbVar.37 protEffect HBA2 or HBA1 25(B5) Tyr>His
HbVar.37 commonName Hb Luxembourg
HbVar.37 ethnic Dutch
HbVar.37 phenoCommon Hemoglobin variant
HbVar.38 protEffect HBA1 25(B5) Tyr>Cys
HbVar.38 commonName Hb Ramona
HbVar.38 ethnic Spanish
HbVar.38 phenoCommon Hemoglobin variant
HbVar.39 protEffect HBA2 or HBA1 27(B7) Ala>Glu
HbVar.39 commonName Hb Shenyang
HbVar.39 ethnic Chinese
HbVar.39 phenoCommon Hemoglobin variant
HbVar.40 protEffect HBA2 27(B7) Ala>Thr
HbVar.40 commonName Hb Caserta
HbVar.40 ethnic Italian
HbVar.40 phenoCommon Hemoglobin variant
HbVar.41 protEffect HBA2 or HBA1 28(B8) Glu>Gly
HbVar.41 commonName Hb Fort Worth
HbVar.41 ethnic Black
HbVar.41 phenoCommon Hemoglobin variant
HbVar.42 protEffect HBA2 or HBA1 28(B8) Glu>Val
HbVar.42 commonName Hb Spanish Town
HbVar.42 ethnic Jamaican
HbVar.42 phenoCommon Hemoglobin variant
HbVar.43 protEffect HBA2 or HBA1 28(B8) Glu>Lys
HbVar.43 commonName Hb Shuangfeng
HbVar.43 ethnic Chinese
HbVar.43 phenoCommon Hemoglobin variant
HbVar.44 protEffect HBA2 28(B8) Glu>Asp
HbVar.44 commonName Hb Hekinan
HbVar.44 ethnic Black
HbVar.44 ethnic Chinese
HbVar.44 ethnic Japanese
HbVar.44 ethnic Thai
HbVar.44 phenoCommon Hemoglobin variant
HbVar.45 protEffect HBA2 30(B10) Leu>Pro
HbVar.45 commonName Hb Agrinio
HbVar.45 alias Codon 29 CTG->CCG of the alpha2 gene alpha-Thal-2
HbVar.45 ethnic Greek Cypriot
HbVar.45 phenoCommon alpha-2 thalassemia
HbVar.45 phenoCommon mild Anemia
HbVar.45 phenoCommon marked Microcytosis
HbVar.45 phenoCommon marked Hypochromia
HbVar.45 phenoCommon few Heinz bodies
HbVar.45 phenoCommon induced by oxidant dyes Heinz bodies
HbVar.46 protEffect HBA2 or HBA1 31(B11) Glu>Lys
HbVar.46 commonName Hb O-Padova
HbVar.46 ethnic Italian
HbVar.46 ethnic Turkish
HbVar.46 phenoCommon Hemoglobin variant
HbVar.47 protEffect HBA2 or HBA1 31(B11) Glu>Gln
HbVar.47 commonName Hb G-Honolulu
HbVar.47 alias Hb G-Singapore
HbVar.47 alias Hb G-Chinese
HbVar.47 alias Hb G-Hong Kong
HbVar.47 ethnic Chinese
HbVar.47 phenoCommon Hemoglobin variant
HbVar.48 protEffect HBA2 or HBA1 32(B12) Arg>Ser
HbVar.48 commonName Hb Prato
HbVar.48 ethnic Italian
HbVar.48 ethnic Taiwanese
HbVar.48 phenoCommon Hemoglobin variant
HbVar.49 protEffect HBA2 or HBA1 35(B15) Leu>Arg
HbVar.49 commonName Hb Queens
HbVar.49 alias Hb Ogi
HbVar.49 ethnic Chinese
HbVar.49 ethnic Japanese
HbVar.49 ethnic Korean
HbVar.49 ethnic Thai
HbVar.49 ethnic Vietnamese
HbVar.49 phenoCommon Hemoglobin variant
HbVar.50 protEffect HBA2 36(B16) Ser>Tyr
HbVar.50 commonName Hb Shinagawa
HbVar.50 ethnic Japanese
HbVar.50 phenoCommon Hemoglobin variant
HbVar.51 protEffect HBA2 or HBA1 38(C2) Pro>Arg
HbVar.51 commonName Hb Boumerdes
HbVar.51 ethnic African-American
HbVar.51 ethnic Algerian
HbVar.51 phenoCommon Hemoglobin variant
HbVar.52 protEffect HBA2 or HBA1 41(C5) Lys>Glu
HbVar.52 commonName Hb Kariya
HbVar.52 ethnic Japanese
HbVar.52 ethnic Caucasian
HbVar.52 phenoCommon Hemoglobin variant
HbVar.53 protEffect HBA2 41(C5) Lys>Met
HbVar.53 commonName Hb Kanagawa
HbVar.53 ethnic Japanese
HbVar.53 phenoCommon Hemoglobin variant
HbVar.54 protEffect HBA2 or HBA1 42(C6) Thr>Ser
HbVar.54 commonName Hb Miyano
HbVar.54 ethnic Japanese
HbVar.54 phenoCommon Hemoglobin variant
HbVar.55 protEffect HBA2 or HBA1 44(CE1) Phe>Val
HbVar.55 commonName Hb Torino
HbVar.55 ethnic Italian
HbVar.55 ethnic Lebanese
HbVar.55 phenoCommon Hemoglobin variant
HbVar.56 protEffect HBA2 44(CE1) Phe>Leu
HbVar.56 commonName Hb Hirosaki
HbVar.56 ethnic Japanese
HbVar.56 phenoCommon Hemoglobin variant
HbVar.57 protEffect HBA2 or HBA1 45(CE2) Pro>Leu
HbVar.57 commonName Hb Milledgeville
HbVar.57 ethnic Black
HbVar.57 phenoCommon Hemoglobin variant
HbVar.58 protEffect HBA2 or HBA1 45(CE2) Pro>Arg
HbVar.58 commonName Hb Kawachi
HbVar.58 ethnic Japanese
HbVar.58 phenoCommon Hemoglobin variant
HbVar.59 protEffect HBA2 or HBA1 46(CE3) His>Arg
HbVar.59 commonName Hb Fort de France
HbVar.59 ethnic French West Indies
HbVar.59 phenoCommon Hemoglobin variant
HbVar.60 protEffect HBA2 or HBA1 46(CE3) His>Gln
HbVar.60 commonName Hb Bari
HbVar.60 ethnic Italian
HbVar.60 phenoCommon Hemoglobin variant
HbVar.61 protEffect HBA2 or HBA1 46(CE3) His>Asp
HbVar.61 commonName Hb Poitiers
HbVar.61 ethnic French
HbVar.61 phenoCommon Hemoglobin variant
HbVar.62 protEffect HBA2 46(CE3) His>Pro
HbVar.62 commonName Hb Oita
HbVar.62 ethnic Japanese
HbVar.62 phenoCommon Hemoglobin variant
HbVar.63 protEffect HBA2 or HBA1 46(CE3) His>Tyr
HbVar.63 commonName Hb Matsudo
HbVar.63 ethnic Asian
HbVar.63 phenoCommon Hemoglobin variant
HbVar.64 protEffect HBA2 or HBA1 48(CE5) Asp>Gly
HbVar.64 commonName Hb Beilinson
HbVar.64 alias Hb Umi
HbVar.64 alias Hb Yukuhashi-II
HbVar.64 alias Hb L-Gaslini
HbVar.64 alias Hb Tagawa-II
HbVar.64 alias Hb Kokura
HbVar.64 alias Hb Mugino
HbVar.64 ethnic Ashkenazi Jews
HbVar.64 ethnic Japanese
HbVar.64 ethnic United Arab Emirates
HbVar.64 phenoCommon Hemoglobin variant
HbVar.65 protEffect HBA2 48(CE5) Asp>His
HbVar.65 commonName Hb Hasharon
HbVar.65 alias Hb Sinai
HbVar.65 alias Hb Sealy
HbVar.65 alias Hb L-Ferrara
HbVar.65 alias Hb Michigan-I
HbVar.65 alias Hb Michigan-II
HbVar.65 ethnic Ashkenazi Jews
HbVar.65 ethnic Italian
HbVar.65 phenoCommon Hemoglobin variant
HbVar.66 protEffect HBA2 or HBA1 48(CE5) Asp>Asn
HbVar.66 commonName Hb Arya
HbVar.66 ethnic Iranian
HbVar.66 phenoCommon Hemoglobin variant
HbVar.67 protEffect HBA2 or HBA1 48(CE5) Asp>Ala
HbVar.67 commonName Hb Cordele
HbVar.67 ethnic Black
HbVar.67 phenoCommon Hemoglobin variant
HbVar.68 protEffect HBA2 48(CE5) Asp>Tyr
HbVar.68 commonName Hb Kurdistan
HbVar.68 ethnic Kurdish
HbVar.68 phenoCommon Hemoglobin variant
HbVar.69 protEffect HBA2 49(CE6) Leu>Arg
HbVar.69 commonName Hb Montgomery
HbVar.69 ethnic Black
HbVar.69 ethnic Chinese
HbVar.69 phenoCommon Hemoglobin variant
HbVar.70 protEffect HBA2 50(CE7) Ser>Arg
HbVar.70 commonName Hb Savaria
HbVar.70 ethnic Hungarian
HbVar.70 ethnic Yugoslavian
HbVar.70 ethnic Kenyan
HbVar.70 ethnic American
HbVar.70 phenoCommon Hemoglobin variant
HbVar.71 protEffect HBA2 51(CE8) His>Asp
HbVar.71 commonName Hb J-Sardegna
HbVar.71 ethnic Italian
HbVar.71 ethnic Sardinian
HbVar.71 phenoCommon Hemoglobin variant
HbVar.72 protEffect HBA2 or HBA1 51(CE8) His>Arg
HbVar.72 commonName Hb Aichi
HbVar.72 ethnic Japanese
HbVar.72 phenoCommon Hemoglobin variant
HbVar.73 protEffect HBA2 or HBA1 51(CE8) His>Gln OR HBA1 or HBA2 51(CE8) His>Gln
HbVar.73 commonName Hb Frankfurt
HbVar.73 ethnic German
HbVar.73 ethnic Italian
HbVar.73 phenoCommon Hemoglobin variant
HbVar.74 protEffect HBA2 or HBA1 52(CE9) Gly>Asp
HbVar.74 commonName Hb J-Abidjan
HbVar.74 ethnic Yacouba
HbVar.74 ethnic Japanese
HbVar.74 phenoCommon Hemoglobin variant
HbVar.75 protEffect HBA2 or HBA1 52(CE9) Gly>Arg
HbVar.75 commonName Hb Russ
HbVar.75 ethnic Caucasian
HbVar.75 ethnic Chinese
HbVar.75 ethnic American
HbVar.75 phenoCommon Hemoglobin variant
HbVar.76 protEffect HBA2 or HBA1 54(E2) Ala>Asp
HbVar.76 commonName Hb J-Rovigo
HbVar.76 ethnic Italian
HbVar.76 ethnic Brazilian
HbVar.76 phenoCommon Hemoglobin variant
HbVar.77 protEffect HBA2 or HBA1 55(E3) Gln>Arg
HbVar.77 commonName Hb Shimonoseki
HbVar.77 alias Hb Hikoshima
HbVar.77 ethnic Japanese
HbVar.77 phenoCommon Hemoglobin variant
HbVar.78 protEffect HBA2 or HBA1 55(E3) Gln>Glu
HbVar.78 commonName Hb Mexico
HbVar.78 alias Hb J-Paris-II
HbVar.78 alias Hb Uppsala
HbVar.78 ethnic Mexican
HbVar.78 ethnic Swedish
HbVar.78 ethnic Algerian
HbVar.78 ethnic Indian
HbVar.78 ethnic Black
HbVar.78 phenoCommon Hemoglobin variant
HbVar.79 protEffect HBA2 or HBA1 57(E5) Lys>Thr
HbVar.79 commonName Hb Thailand
HbVar.79 ethnic Thai
HbVar.79 phenoCommon Hemoglobin variant
HbVar.80 protEffect HBA2 or HBA1 57(E5) Lys>Glu
HbVar.80 commonName Hb Shaare Zedek
HbVar.80 ethnic Jewish
HbVar.80 phenoCommon Hemoglobin variant
HbVar.81 protEffect HBA2 or HBA1 57(E5) Lys>Asn
HbVar.81 commonName Hb Belliard
HbVar.81 ethnic Spanish
HbVar.81 phenoCommon Hemoglobin variant
HbVar.82 protEffect HBA2 or HBA1 57(E5) Lys>Arg
HbVar.82 commonName Hb Port Huron
HbVar.82 ethnic African-American
HbVar.82 phenoCommon Hemoglobin variant
HbVar.83 protEffect HBA2 or HBA1 58(E6) Gly>Arg
HbVar.83 commonName Hb L-Persian Gulf
HbVar.83 ethnic Persian Gulf
HbVar.83 phenoCommon Hemoglobin variant
HbVar.84 protEffect HBA2 or HBA1 58(E6) Gly>Asp
HbVar.84 commonName Hb J-Norfolk
HbVar.84 alias Hb Kagoshima
HbVar.84 alias Hb Nishik-I
HbVar.84 alias Hb Nishik-II
HbVar.84 alias Hb Nishik-III
HbVar.84 ethnic English
HbVar.84 ethnic Italian
HbVar.84 ethnic Japanese
HbVar.84 ethnic Nepali
HbVar.84 phenoCommon Hemoglobin variant
HbVar.85 protEffect HBA2 or HBA1 59(E7) His>Tyr
HbVar.85 commonName Hb M-Boston
HbVar.85 alias Hb M-Osaka
HbVar.85 alias Hb M-Gothenburg
HbVar.85 alias Hb M-Kiskunhalas
HbVar.85 alias Hb M-Norin
HbVar.85 ethnic German
HbVar.85 ethnic Swedish
HbVar.85 ethnic Dutch
HbVar.85 ethnic Hungarian
HbVar.85 ethnic Japanese
HbVar.85 phenoCommon Hemoglobin variant
HbVar.86 protEffect HBA2 or HBA1 60(E8) Gly>Val
HbVar.86 commonName Hb Tottori
HbVar.86 ethnic Japanese
HbVar.86 phenoCommon Hemoglobin variant
HbVar.87 protEffect HBA2 or HBA1 60(E8) Gly>Asp
HbVar.87 commonName Hb Adana
HbVar.87 alias Codon 59 (G->A) of the alpha1 gene; GGC->GAC alpha-Thal-2
HbVar.87 ethnic Turkish
HbVar.87 phenoCommon alpha-2 thalassemia
HbVar.88 protEffect HBA2 or HBA1 61(E9) Lys>Asn
HbVar.88 commonName Hb Zambia
HbVar.88 ethnic Zambian
HbVar.88 phenoCommon Hemoglobin variant
HbVar.89 protEffect HBA2 or HBA1 61(E9) Lys>Glu
HbVar.89 commonName Hb Dagestan
HbVar.89 ethnic Dagestan
HbVar.89 phenoCommon Hemoglobin variant
HbVar.90 protEffect HBA2 or HBA1 62(E10) Lys>Asn
HbVar.90 commonName Hb J-Buda
HbVar.90 ethnic Hungarian
HbVar.90 phenoCommon Hemoglobin variant
HbVar.91 protEffect HBA2 62(E10) Lys>Thr
HbVar.91 commonName Hb J-Anatolia
HbVar.91 ethnic Turkish
HbVar.91 phenoCommon Hemoglobin variant
HbVar.92 protEffect HBA2 or HBA1 62(E10) Lys>Glu
HbVar.92 commonName Hb Miyagi
HbVar.92 ethnic Japanese
HbVar.92 phenoCommon Hemoglobin variant
HbVar.93 protEffect HBA2 63(E11) Val>Met
HbVar.93 commonName Hb Evans
HbVar.93 ethnic Caucasian
HbVar.93 phenoCommon Hemoglobin variant
HbVar.94 protEffect HBA2 or HBA1 64(E12) Ala>Asp
HbVar.94 commonName Hb Pontoise
HbVar.94 alias Hb J-Pontoise
HbVar.94 ethnic Spanish
HbVar.94 phenoCommon Hemoglobin variant
HbVar.95 protEffect HBA2 65(E13) Asp>Asn
HbVar.95 commonName Hb G-Waimanalo
HbVar.95 alias Hb Aida
HbVar.95 ethnic Indian
HbVar.95 ethnic Philippine
HbVar.95 ethnic Rumanian
HbVar.95 ethnic Spanish
HbVar.95 phenoCommon Hemoglobin variant
HbVar.96 protEffect HBA2 or HBA1 65(E13) Asp>Tyr
HbVar.96 commonName Hb Persepolis
HbVar.96 ethnic Indian Sikh
HbVar.96 phenoCommon Hemoglobin variant
HbVar.97 protEffect HBA1 65(E13) Asp>His
HbVar.97 commonName Hb Q-India
HbVar.97 ethnic Hindu
HbVar.97 ethnic French
HbVar.97 ethnic Iranian
HbVar.97 phenoCommon Hemoglobin variant
HbVar.98 protEffect HBA2 or HBA1 65(E13) Asp>Gly
HbVar.98 commonName Hb Guangzhou-Hangzhou
HbVar.98 ethnic Chinese
HbVar.98 phenoCommon Hemoglobin variant
HbVar.99 protEffect HBA2 or HBA1 66(E14) Ala>Val
HbVar.99 commonName Hb Bois Guillaume
HbVar.99 ethnic French
HbVar.99 phenoCommon Hemoglobin variant
HbVar.100 protEffect HBA2 or HBA1 69(E17) Asn>Lys
HbVar.100 commonName Hb G-Philadelphia
HbVar.100 alias Hb G-Knoxville
HbVar.100 alias Hb Stanleyville-I
HbVar.100 alias Hb D-Washington
HbVar.100 alias Hb D-St. Louis
HbVar.100 alias Hb G-Bristol
HbVar.100 alias Hb G-Azakouli
HbVar.100 alias Hb D-Baltimore
HbVar.100 ethnic Black
HbVar.100 ethnic Italian
HbVar.100 ethnic Chinese
HbVar.100 phenoCommon Hemoglobin variant
HbVar.101 protEffect HBA2 or HBA1 69(E17) Asn>Asp
HbVar.101 commonName Hb Ube-2
HbVar.101 ethnic Japanese
HbVar.101 ethnic Taiwanese
HbVar.101 phenoCommon Hemoglobin variant
HbVar.102 protEffect HBA2 or HBA1 72(E20) Ala>Glu
HbVar.102 commonName Hb J-Habana
HbVar.102 ethnic Cuban
HbVar.102 ethnic Japanese
HbVar.102 phenoCommon Hemoglobin variant
HbVar.103 protEffect HBA2 or HBA1 72(E20) Ala>Val
HbVar.103 commonName Hb Ozieri
HbVar.103 ethnic Sardinian
HbVar.103 phenoCommon Hemoglobin variant
HbVar.104 protEffect HBA2 or HBA1 73(EF1) His>Arg
HbVar.104 commonName Hb Daneshgah-Tehran
HbVar.104 ethnic Iranian
HbVar.104 ethnic Argentine
HbVar.104 phenoCommon Hemoglobin variant
HbVar.105 protEffect HBA2 73(EF1) His>Gln
HbVar.105 commonName Hb Gouda
HbVar.105 ethnic Dutch
HbVar.105 phenoCommon Hemoglobin variant
HbVar.106 protEffect HBA2 or HBA1 73(EF1) His>Tyr
HbVar.106 commonName Hb Fuchu-I
HbVar.106 alias Hb Tanashi
HbVar.106 ethnic Japanese
HbVar.106 phenoCommon Hemoglobin variant
HbVar.107 protEffect HBA1 75(EF3) Asp>His
HbVar.107 commonName Hb Q-Thailand
HbVar.107 alias Hb G-Taichung
HbVar.107 alias Hb Mahidol
HbVar.107 alias Hb Kurashiki-I
HbVar.107 alias Hb Asabara
HbVar.107 ethnic Chinese
HbVar.107 ethnic Thai
HbVar.107 ethnic Japanese
HbVar.107 phenoCommon Hemoglobin variant
HbVar.108 protEffect HBA2 or HBA1 75(EF3) Asp>Ala
HbVar.108 commonName Hb Lille
HbVar.108 ethnic Algerian
HbVar.108 phenoCommon Hemoglobin variant
HbVar.109 protEffect HBA2 or HBA1 75(EF3) Asp>Asn
HbVar.109 commonName Hb G-Pest
HbVar.109 ethnic Hungarian
HbVar.109 phenoCommon Hemoglobin variant
HbVar.110 protEffect HBA1 75(EF3) Asp>Gly
HbVar.110 commonName Hb Chapel Hill
HbVar.110 ethnic Caucasian
HbVar.110 ethnic Chinese
HbVar.110 phenoCommon Hemoglobin variant
HbVar.111 protEffect HBA2 or HBA1 76(EF4) Asp>His
HbVar.111 commonName Hb Q-Iran
HbVar.111 ethnic Iranian
HbVar.111 ethnic Turkish
HbVar.111 ethnic Pakistani
HbVar.111 phenoCommon Hemoglobin variant
HbVar.112 protEffect HBA1 76(EF4) Asp>Ala
HbVar.112 commonName Hb Duan
HbVar.112 ethnic Chinese
HbVar.112 phenoCommon Hemoglobin variant
HbVar.113 protEffect HBA2 or HBA1 76(EF4) Asp>Tyr
HbVar.113 commonName Hb Winnipeg
HbVar.113 ethnic Caucasian
HbVar.113 ethnic Sardinian
HbVar.113 phenoCommon Hemoglobin variant
HbVar.114 protEffect HBA2 or HBA1 76(EF4) Asp>Asn
HbVar.114 commonName Hb Matsue-Oki
HbVar.114 ethnic Japanese
HbVar.114 ethnic Black
HbVar.114 phenoCommon Hemoglobin variant
HbVar.115 protEffect HBA2 or HBA1 76(EF4) Asp>Gly
HbVar.115 commonName Hb Mizushi
HbVar.115 ethnic Japanese
HbVar.115 phenoCommon Hemoglobin variant
HbVar.116 protEffect HBA2 or HBA1 77(EF5) Met>Lys
HbVar.116 commonName Hb Noko
HbVar.116 phenoCommon Hemoglobin variant
HbVar.117 protEffect HBA2 or HBA1 77(EF5) Met>Thr
HbVar.117 commonName Hb Aztec
HbVar.117 ethnic Mexican
HbVar.117 ethnic Spanish
HbVar.117 phenoCommon Hemoglobin variant
HbVar.118 protEffect HBA2 or HBA1 78(EF6) Pro>Arg
HbVar.118 commonName Hb GuiZhou
HbVar.118 ethnic Chinese
HbVar.118 ethnic Japanese
HbVar.118 phenoCommon Hemoglobin variant
HbVar.119 protEffect HBA2 79(EF7) Asn>Lys
HbVar.119 commonName Hb Stanleyville-II
HbVar.119 ethnic Black
HbVar.119 phenoCommon Hemoglobin variant
HbVar.120 protEffect HBA2 or HBA1 79(EF7) Asn>Asp
HbVar.120 commonName Hb J-Singa
HbVar.120 ethnic Acadian
HbVar.120 ethnic French
HbVar.120 phenoCommon Hemoglobin variant
HbVar.121 protEffect HBA1 79(EF7) Asn>His
HbVar.121 commonName Hb Davenport
HbVar.121 ethnic German
HbVar.121 phenoCommon Hemoglobin variant
HbVar.122 protEffect HBA2 or HBA1 80(EF8) Ala>Thr
HbVar.122 commonName Hb Mantes-La-Jolie
HbVar.122 ethnic Chadian
HbVar.122 phenoCommon Hemoglobin variant
HbVar.123 protEffect HBA2 or HBA1 81(F1) Leu>Arg
HbVar.123 commonName Hb Ann Arbor
HbVar.123 ethnic Caucasian
HbVar.123 phenoCommon Hemoglobin variant
HbVar.124 protEffect HBA2 81(F1) Leu>Val
HbVar.124 commonName Hb Conakry
HbVar.124 ethnic Guinean
HbVar.124 phenoCommon Hemoglobin variant
HbVar.125 protEffect HBA2 or HBA1 82(F2) Ser>Cys
HbVar.125 commonName Hb Nigeria
HbVar.125 ethnic Nigerian
HbVar.125 phenoCommon Hemoglobin variant
HbVar.126 protEffect HBA2 or HBA1 83(F3) Ala>Asp
HbVar.126 commonName Hb Garden State
HbVar.126 phenoCommon Hemoglobin variant
HbVar.127 protEffect HBA2 84(F4) Leu>Pro
HbVar.127 commonName Hb Les Andelys
HbVar.127 ethnic French
HbVar.127 phenoCommon Hemoglobin variant
HbVar.128 protEffect HBA2 or HBA1 85(F5) Ser>Arg
HbVar.128 commonName Hb Etobicoke
HbVar.128 ethnic Irish
HbVar.128 ethnic French
HbVar.128 ethnic American Indian
HbVar.128 ethnic English
HbVar.128 phenoCommon Hemoglobin variant
HbVar.129 protEffect HBA2 or HBA1 86(F6) Asp>Asn
HbVar.129 commonName Hb G-Norfolk
HbVar.129 ethnic English
HbVar.129 phenoCommon Hemoglobin variant
HbVar.130 protEffect HBA2 or HBA1 86(F6) Asp>Tyr
HbVar.130 commonName Hb Atago
HbVar.130 ethnic Japanese
HbVar.130 phenoCommon Hemoglobin variant
HbVar.131 protEffect HBA2 86(F6) Asp>Val
HbVar.131 commonName Hb Inkster
HbVar.131 ethnic English
HbVar.131 ethnic German
HbVar.131 ethnic Black
HbVar.131 phenoCommon Hemoglobin variant
HbVar.132 protEffect HBA2 or HBA1 87(F7) Leu>Arg
HbVar.132 commonName Hb Moabit
HbVar.132 ethnic Turkish
HbVar.132 phenoCommon Hemoglobin variant
HbVar.133 protEffect HBA2 or HBA1 88(F8) His>Arg
HbVar.133 commonName Hb Iwata
HbVar.133 ethnic Japanese
HbVar.133 ethnic Chinese
HbVar.133 phenoCommon Hemoglobin variant
HbVar.134 protEffect HBA2 or HBA1 88(F8) His>Tyr
HbVar.134 commonName Hb M-Iwate
HbVar.134 alias Hb M-Kankakee
HbVar.134 alias Hb M-Oldenburg
HbVar.134 alias Hb M-Sendai
HbVar.134 ethnic Japanese
HbVar.134 ethnic Irish
HbVar.134 ethnic German
HbVar.134 ethnic Turkish
HbVar.134 ethnic Rumanian
HbVar.134 ethnic Scottish
HbVar.134 ethnic Caucasian
HbVar.134 ethnic Black
HbVar.134 phenoCommon Hemoglobin variant
HbVar.135 protEffect HBA2 or HBA1 88(F8) His>Asn
HbVar.135 commonName Hb Auckland
HbVar.135 ethnic New Zealand
HbVar.135 phenoCommon Hemoglobin variant
HbVar.136 protEffect HBA2 or HBA1 89(F9) Ala>Ser
HbVar.136 commonName Hb Loire
HbVar.136 ethnic French
HbVar.136 ethnic Algerian
HbVar.136 phenoCommon Hemoglobin variant
HbVar.137 protEffect HBA2 or HBA1 89(F9) Ala>Val
HbVar.137 commonName Hb Columbia Missouri
HbVar.137 ethnic Caucasian
HbVar.137 phenoCommon Hemoglobin variant
HbVar.138 protEffect HBA2 or HBA1 89(F9) Ala>Gly
HbVar.138 commonName Hb Valparaiso
HbVar.138 ethnic Chilean
HbVar.138 phenoCommon Hemoglobin variant
HbVar.139 protEffect HBA2 or HBA1 90(FG1) His>Leu
HbVar.139 commonName Hb Luton
HbVar.139 ethnic Pakistani
HbVar.139 phenoCommon Hemoglobin variant
HbVar.140 protEffect HBA2 or HBA1 90(FG1) His>Tyr
HbVar.140 commonName Hb Villeurbanne
HbVar.140 phenoCommon Hemoglobin variant
HbVar.141 protEffect HBA2 or HBA1 90(FG1) His>Pro
HbVar.141 commonName Hb Tokyo
HbVar.141 ethnic Japanese
HbVar.141 phenoCommon Hemoglobin variant
HbVar.142 protEffect HBA2 91(FG2) Lys>Asn OR HBA1 91(FG2) Lys>Asn
HbVar.142 commonName Hb J-Broussais
HbVar.142 alias Hb Tagawa-I
HbVar.142 ethnic French
HbVar.142 ethnic Australian
HbVar.142 ethnic French Canadian
HbVar.142 ethnic Japanese
HbVar.142 phenoCommon Hemoglobin variant
HbVar.143 protEffect HBA1 91(FG2) Lys>Thr
HbVar.143 commonName Hb J-Rajappen
HbVar.143 ethnic Indian
HbVar.143 phenoCommon Hemoglobin variant
HbVar.144 protEffect HBA2 or HBA1 91(FG2) Lys>Met
HbVar.144 commonName Hb Handa
HbVar.144 alias Hb Munakata
HbVar.144 ethnic Japanese
HbVar.144 phenoCommon Hemoglobin variant
HbVar.145 protEffect HBA2 or HBA1 92(FG3) Leu>Pro
HbVar.145 commonName Hb Port Phillip
HbVar.145 ethnic Chinese
HbVar.145 phenoCommon Hemoglobin variant
HbVar.146 protEffect HBA2 or HBA1 93(FG4) Arg>Gln
HbVar.146 commonName Hb J-Cape Town
HbVar.146 ethnic Japanese
HbVar.146 ethnic South African
HbVar.146 phenoCommon Hemoglobin variant
HbVar.147 protEffect HBA2 or HBA1 93(FG4) Arg>Trp
HbVar.147 commonName Hb Cemenelum
HbVar.147 ethnic French Caucasian
HbVar.147 phenoCommon Hemoglobin variant
HbVar.148 protEffect HBA2 or HBA1 93(FG4) Arg>Leu
HbVar.148 commonName Hb Chesapeake
HbVar.148 ethnic German
HbVar.148 ethnic Irish
HbVar.148 ethnic Japanese
HbVar.148 phenoCommon Hemoglobin variant
HbVar.149 protEffect HBA2 93(FG4) Arg>Pro
HbVar.149 commonName Hb Monou
HbVar.149 ethnic Japanese
HbVar.149 phenoCommon Hemoglobin variant
HbVar.150 protEffect HBA2 94(FG5) Val>Gly
HbVar.150 commonName Hb Bronte
HbVar.150 ethnic Italian
HbVar.150 phenoCommon Hemoglobin variant
HbVar.151 protEffect HBA2 or HBA1 95(G1) Asp>Asn
HbVar.151 commonName Hb Titusville
HbVar.151 ethnic Black
HbVar.151 ethnic Scandinavian
HbVar.151 phenoCommon Hemoglobin variant
HbVar.152 protEffect HBA2 95(G1) Asp>Tyr
HbVar.152 commonName Hb Setif
HbVar.152 ethnic Algerian
HbVar.152 ethnic Iranian
HbVar.152 ethnic Lebanese
HbVar.152 ethnic Saudi Arabian
HbVar.152 phenoCommon Hemoglobin variant
HbVar.153 protEffect HBA2 95(G1) Asp>His
HbVar.153 commonName Hb Sunshine Seth
HbVar.153 ethnic Caucasian
HbVar.153 phenoCommon Hemoglobin variant
HbVar.154 protEffect HBA1 95(G1) Asp>Gly
HbVar.154 commonName Hb Capa
HbVar.154 ethnic Turkish
HbVar.154 phenoCommon Hemoglobin variant
HbVar.155 protEffect HBA2 or HBA1 95(G1) Asp>Glu
HbVar.155 commonName Hb Roanne
HbVar.155 ethnic French
HbVar.155 phenoCommon Hemoglobin variant
HbVar.156 protEffect HBA2 or HBA1 95(G1) Asp>Ala
HbVar.156 commonName Hb Bassett
HbVar.156 ethnic Caucasian
HbVar.156 phenoCommon Hemoglobin variant
HbVar.157 protEffect HBA2 96(G2) Pro>Leu
HbVar.157 commonName Hb G-Georgia
HbVar.157 ethnic Black
HbVar.157 ethnic Portuguese
HbVar.157 phenoCommon Hemoglobin variant
HbVar.158 protEffect HBA2 or HBA1 96(G2) Pro>Ser
HbVar.158 commonName Hb Rampa
HbVar.158 ethnic Indian
HbVar.158 ethnic North European
HbVar.158 phenoCommon Hemoglobin variant
HbVar.159 protEffect HBA2 or HBA1 96(G2) Pro>Ala
HbVar.159 commonName Hb Denmark Hill
HbVar.159 ethnic West Indian
HbVar.159 ethnic Spanish
HbVar.159 phenoCommon Hemoglobin variant
HbVar.160 protEffect HBA1 96(G2) Pro>Arg
HbVar.160 commonName Hb St. Luke's
HbVar.160 ethnic Maltese
HbVar.160 ethnic Japanese
HbVar.160 phenoCommon Hemoglobin variant
HbVar.161 protEffect HBA2 or HBA1 96(G2) Pro>Thr
HbVar.161 commonName Hb Godavari
HbVar.161 ethnic Indian
HbVar.161 ethnic Malay
HbVar.161 ethnic African
HbVar.161 phenoCommon Hemoglobin variant
HbVar.162 protEffect HBA2 98(G4) Asn>Lys
HbVar.162 commonName Hb Dallas
HbVar.162 ethnic Caucasian
HbVar.162 phenoCommon Hemoglobin variant
HbVar.163 protEffect HBA2 98(G4) Asn>His
HbVar.163 commonName Hb Fuchu-II
HbVar.163 alias Hb Shinbashi
HbVar.163 ethnic Japanese
HbVar.163 phenoCommon Hemoglobin variant
HbVar.164 protEffect HBA2 or HBA1 100(G6) Lys>Glu
HbVar.164 commonName Hb Turriff
HbVar.164 ethnic Scottish
HbVar.164 phenoCommon Hemoglobin variant
HbVar.165 protEffect HBA2 103(G9) Ser>Arg
HbVar.165 commonName Hb Manitoba I
HbVar.165 ethnic English
HbVar.165 ethnic German
HbVar.165 ethnic Irish
HbVar.165 ethnic Italian
HbVar.165 phenoCommon Hemoglobin variant
HbVar.166 protEffect HBA2 or HBA1 104(G10) His>Arg
HbVar.166 commonName Hb Contaldo
HbVar.166 ethnic Italian
HbVar.166 phenoCommon Hemoglobin variant
HbVar.167 protEffect HBA2 105(G11) Cys>Tyr
HbVar.167 commonName Hb Sallanches
HbVar.167 alias Codon 104 (G->A) of the alpha2 gene; TGC->TAC alpha-Thal-2
HbVar.167 ethnic French Caucasian
HbVar.167 ethnic Indian
HbVar.167 ethnic Pakistani
HbVar.167 phenoCommon Thalassemia
HbVar.167 phenoCommon Splenomegaly
HbVar.167 phenoCommon hemolytic Anemia
HbVar.167 phenoCommon hemolytic crisis induced by oxidative stress Anemia
HbVar.168 protEffect HBA2 110(G16) Leu>Arg
HbVar.168 commonName Hb Suan-Dok
HbVar.168 alias Codon 109 (T->G) of the alpha2 gene; CTG->CGG alpha-Thal-2
HbVar.168 ethnic Thai
HbVar.168 phenoCommon Thalassemia
HbVar.169 protEffect HBA2 or HBA1 111(G17) Ala>Asp
HbVar.169 commonName Hb Petah Tikva
HbVar.169 alias Codon 110 (C->A); alpha2 or alpha1 gene; GCC->GAC alpha-Thal-2
HbVar.169 ethnic Iraqi Jews
HbVar.169 phenoCommon alpha-2 thalassemia
HbVar.170 protEffect HBA2 or HBA1 111(G17) Ala>Thr
HbVar.170 commonName Hb Tonosho
HbVar.170 ethnic Japanese
HbVar.170 phenoCommon Hemoglobin variant
HbVar.171 protEffect HBA2 112(G18) Ala>Val
HbVar.171 commonName Hb Anamosa
HbVar.171 ethnic Caucasian
HbVar.171 phenoCommon Hemoglobin variant
HbVar.172 protEffect HBA2 or HBA1 112(G18) Ala>Thr
HbVar.172 commonName Hb Mosella
HbVar.172 ethnic Luxembourg
HbVar.172 phenoCommon Hemoglobin variant
HbVar.173 protEffect HBA2 or HBA1 113(G19) His>Asp
HbVar.173 commonName Hb Hopkins-II
HbVar.173 ethnic Caucasian
HbVar.173 phenoCommon Hemoglobin variant
HbVar.174 protEffect HBA2 or HBA1 113(G19) His>Arg
HbVar.174 commonName Hb Strumica
HbVar.174 alias Hb Serbia
HbVar.174 ethnic Serbian
HbVar.174 ethnic Turkish
HbVar.174 ethnic Macedonian
HbVar.174 phenoCommon Hemoglobin variant
HbVar.175 protEffect HBA2 or HBA1 114(GH1) Leu>His
HbVar.175 commonName Hb Twin Peaks
HbVar.175 ethnic Irish
HbVar.175 ethnic Mexican
HbVar.175 phenoCommon Hemoglobin variant
HbVar.176 protEffect HBA2 or HBA1 115(GH2) Pro>Arg
HbVar.176 commonName Hb Chiapas
HbVar.176 ethnic Mexican
HbVar.176 phenoCommon Hemoglobin variant
HbVar.177 protEffect HBA2 or HBA1 115(GH2) Pro>Leu
HbVar.177 commonName Hb Nouakchott
HbVar.177 ethnic Northwest African
HbVar.177 phenoCommon Hemoglobin variant
HbVar.178 protEffect HBA2 or HBA1 115(GH2) Pro>Ser
HbVar.178 commonName Hb Melusine
HbVar.178 ethnic Algerian
HbVar.178 phenoCommon Hemoglobin variant
HbVar.179 protEffect HBA2 or HBA1 116(GH3) Ala>Asp
HbVar.179 commonName Hb J-Tongariki
HbVar.179 ethnic Kilengi
HbVar.179 ethnic Melanesian
HbVar.179 phenoCommon Hemoglobin variant
HbVar.180 protEffect HBA1 117(GH4) Glu>Lys
HbVar.180 commonName Hb O-Indonesia
HbVar.180 alias Hb Oliviere
HbVar.180 alias Hb Buginese-X
HbVar.180 ethnic Buginese
HbVar.180 ethnic Chinese
HbVar.180 ethnic Iranian
HbVar.180 ethnic Italian
HbVar.180 ethnic Makassars
HbVar.180 ethnic South African
HbVar.180 phenoCommon Hemoglobin variant
HbVar.181 protEffect HBA2 or HBA1 117(GH4) Glu>Ala
HbVar.181 commonName Hb Ube-4
HbVar.181 ethnic Japanese
HbVar.181 ethnic Korean
HbVar.181 phenoCommon Hemoglobin variant
HbVar.182 protEffect HBA2 or HBA1 117(GH4) Glu>Gln
HbVar.182 commonName Hb Oleander
HbVar.182 ethnic Black
HbVar.182 phenoCommon Hemoglobin variant
HbVar.183 protEffect HBA2 or HBA1 121(H3) Ala>Glu
HbVar.183 commonName Hb J-Meerut
HbVar.183 alias Hb J-Birmingham
HbVar.183 ethnic Indian
HbVar.183 ethnic Japanese
HbVar.183 ethnic Turkish
HbVar.183 phenoCommon Hemoglobin variant
HbVar.184 protEffect HBA2 or HBA1 122(H4) Val>Met
HbVar.184 commonName Hb Owari
HbVar.184 ethnic Japanese
HbVar.184 phenoCommon Hemoglobin variant
HbVar.185 protEffect HBA2 123(H5) His>Gln
HbVar.185 commonName Hb Westmead
HbVar.185 ethnic Laotian
HbVar.185 ethnic Chinese
HbVar.185 phenoCommon Hemoglobin variant
HbVar.186 protEffect HBA1 124(H6) Ala>Ser
HbVar.186 commonName Hb Mulhacen
HbVar.186 ethnic Spanish
HbVar.186 phenoCommon Hemoglobin variant
HbVar.187 protEffect HBA2 126(H8) Leu>Pro
HbVar.187 commonName Hb Quong Sze
HbVar.187 alias Codon 125 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2
HbVar.187 ethnic Chinese
HbVar.187 phenoCommon alpha-2 thalassemia
HbVar.188 protEffect HBA2 or HBA1 127(H9) Asp>Asn
HbVar.188 commonName Hb Tarrant
HbVar.188 ethnic Mexican
HbVar.188 phenoCommon Hemoglobin variant
HbVar.188 phenoCommon mild Erythrocytosis
HbVar.189 protEffect HBA1 127(H9) Asp>His
HbVar.189 commonName Hb Sassari
HbVar.189 ethnic Northern Sardinia
HbVar.189 phenoCommon Hemoglobin variant
HbVar.190 protEffect HBA2 or HBA1 127(H9) Asp>Val
HbVar.190 commonName Hb Fukutomi
HbVar.190 ethnic Japanese
HbVar.190 phenoCommon Hemoglobin variant
HbVar.191 protEffect HBA2 or HBA1 127(H9) Asp>Tyr
HbVar.191 commonName Hb Montefiore
HbVar.191 ethnic Puerto Rican
HbVar.191 phenoCommon Hemoglobin variant
HbVar.192 protEffect HBA2 or HBA1 127(H9) Asp>Gly
HbVar.192 commonName Hb West One
HbVar.192 ethnic Egyptian
HbVar.192 phenoCommon Hemoglobin variant
HbVar.193 protEffect HBA2 or HBA1 128(H10) Lys>Thr
HbVar.193 commonName Hb St. Claude
HbVar.193 ethnic French Canadian
HbVar.193 phenoCommon Hemoglobin variant
HbVar.194 protEffect HBA2 or HBA1 128(H10) Lys>Asn
HbVar.194 commonName Hb Jackson
HbVar.194 ethnic Black
HbVar.194 phenoCommon Hemoglobin variant
HbVar.195 protEffect HBA1 130(H12) Leu>Pro
HbVar.195 commonName Hb Tunis-Bizerte
HbVar.195 alias Hb Utrecht
HbVar.195 ethnic Tunisian
HbVar.195 phenoCommon Hemoglobin variant
HbVar.195 phenoCommon marked Anemia
HbVar.195 phenoCommon Microcytosis
HbVar.196 protEffect HBA2 130(H12) Leu>Pro
HbVar.196 commonName Hb Utrecht
HbVar.196 alias Codon 129 (T->C) of the alpha2 gene; CTG->CCG alpha-Thal-2
HbVar.196 ethnic Polish
HbVar.196 ethnic Indonesian
HbVar.196 ethnic Armenian
HbVar.196 phenoCommon alpha-2 thalassemia
HbVar.197 protEffect HBA2 131(H13) Ala>Pro
HbVar.197 commonName Hb Sun Prairie
HbVar.197 alias Codon 130 (G->C) of the alpha2 gene; GCT->CCT alpha-Thal-2
HbVar.197 ethnic Indian
HbVar.197 phenoCommon alpha-2 thalassemia
HbVar.197 phenoCommon moderate Splenomegaly
HbVar.197 phenoCommon Heinz bodies
HbVar.198 protEffect HBA2 131(H13) Ala>Asp
HbVar.198 commonName Hb Yuda
HbVar.198 ethnic Japanese
HbVar.198 phenoCommon Hemoglobin variant
HbVar.199 protEffect HBA2 or HBA1 132(H14) Ser>Pro
HbVar.199 commonName Hb Questembert
HbVar.199 alias Codon 131 (T->C) at codon 131 of the alpha2 gene; TCT->CCT alpha-Thal-2
HbVar.199 ethnic French
HbVar.199 phenoCommon alpha-2 thalassemia
HbVar.200 protEffect HBA2 or HBA1 133(H15) Val>Gly
HbVar.200 commonName Hb Caen
HbVar.200 ethnic French Caucasian
HbVar.200 phenoCommon Hemoglobin variant
HbVar.201 protEffect HBA2 or HBA1 134(H16) Ser>Arg
HbVar.201 commonName Hb Val de Marne
HbVar.201 alias Hb Footscray
HbVar.201 ethnic Chinese
HbVar.201 ethnic French
HbVar.201 ethnic Hungarian
HbVar.201 ethnic Polish
HbVar.201 phenoCommon Hemoglobin variant
HbVar.202 protEffect HBA2 or HBA1 134(H16) Ser>Asn
HbVar.202 commonName Hb Saclay
HbVar.202 ethnic Algerian
HbVar.202 ethnic Alsatian
HbVar.202 phenoCommon Hemoglobin variant
HbVar.203 protEffect HBA2 or HBA1 136(H18) Val>Glu
HbVar.203 commonName Hb Pavie
HbVar.203 ethnic Italian
HbVar.203 phenoCommon Hemoglobin variant
HbVar.204 protEffect HBA2 137(H19) Leu>Pro
HbVar.204 commonName Hb Bibba
HbVar.204 ethnic Caucasian
HbVar.204 phenoCommon Hemoglobin variant
HbVar.205 protEffect HBA2 or HBA1 137(H19) Leu>Arg
HbVar.205 commonName Hb Toyama
HbVar.205 ethnic Japanese
HbVar.205 phenoCommon Hemoglobin variant
HbVar.206 protEffect HBA2 137(H19) Leu>Met
HbVar.206 commonName Hb Chicago
HbVar.206 ethnic Black
HbVar.206 phenoCommon Hemoglobin variant
HbVar.207 protEffect HBA2 or HBA1 139(H21) Ser>Pro
HbVar.207 commonName Hb Attleboro
HbVar.207 phenoCommon Hemoglobin variant
HbVar.208 protEffect HBA2 or HBA1 140(HC1) Lys>Thr
HbVar.208 commonName Hb Tokoname
HbVar.208 ethnic Japanese
HbVar.208 phenoCommon Hemoglobin variant
HbVar.209 protEffect HBA1 140(HC1) Lys>Glu
HbVar.209 commonName Hb Hanamaki-1
HbVar.209 ethnic Japanese
HbVar.209 phenoCommon Hemoglobin variant
HbVar.210 protEffect HBA2 or HBA1 141(HC2) Tyr>His
HbVar.210 commonName Hb Ethiopia
HbVar.210 alias Hb Rouen
HbVar.210 ethnic Ethiopian
HbVar.210 ethnic French
HbVar.210 phenoCommon Hemoglobin variant
HbVar.211 protEffect HBA2 or HBA1 142(HC3) Arg>Pro
HbVar.211 commonName Hb Singapore
HbVar.211 ethnic Singapore
HbVar.211 phenoCommon Hemoglobin variant
HbVar.212 protEffect HBA2 or HBA1 142(HC3) Arg>His
HbVar.212 commonName Hb Suresnes
HbVar.212 ethnic French
HbVar.212 ethnic Black
HbVar.212 phenoCommon Hemoglobin variant
HbVar.213 protEffect HBA2 or HBA1 142(HC3) Arg>Ser
HbVar.213 commonName Hb J-Cubujuqui
HbVar.213 ethnic American Indian
HbVar.213 ethnic Mexican
HbVar.213 phenoCommon Hemoglobin variant
HbVar.214 protEffect HBA2 or HBA1 142(HC3) Arg>Leu
HbVar.214 commonName Hb Legnano
HbVar.214 ethnic Italian
HbVar.214 ethnic Japanese
HbVar.214 phenoCommon Hemoglobin variant
HbVar.215 protEffect HBA2 or HBA1 142(HC3) Arg>Gly
HbVar.215 commonName Hb J-Camaguey
HbVar.215 ethnic Spanish
HbVar.215 ethnic Chinese
HbVar.215 ethnic Australian
HbVar.215 phenoCommon Hemoglobin variant
HbVar.216 protEffect HBA2 or HBA1 142(HC3) Arg>Cys
HbVar.216 commonName Hb Nunobiki
HbVar.216 ethnic Japanese
HbVar.216 phenoCommon Hemoglobin variant
HbVar.217 protEffect HBB 2(NA1) Val>Ala
HbVar.217 commonName Hb Raleigh
HbVar.217 ethnic Swedish
HbVar.217 ethnic Caucasian
HbVar.217 phenoCommon Hemoglobin variant
HbVar.218 protEffect HBB 2(NA1) Val>Leu
HbVar.218 commonName Hb Niigata
HbVar.218 ethnic Japanese
HbVar.218 phenoCommon Hemoglobin variant
HbVar.219 protEffect HBB 3(NA2) His>Arg
HbVar.219 commonName Hb Deer Lodge
HbVar.219 ethnic Welsh
HbVar.219 ethnic Dutch
HbVar.219 ethnic English
HbVar.219 ethnic Black
HbVar.219 phenoCommon Hemoglobin variant
HbVar.220 protEffect HBB 3(NA2) His>Gln
HbVar.220 commonName Hb Okayama
HbVar.220 ethnic Japanese
HbVar.220 phenoCommon Hemoglobin variant
HbVar.221 protEffect HBB 3(NA2) His>Tyr
HbVar.221 commonName Hb Fukuoka
HbVar.221 ethnic Japanese
HbVar.221 phenoCommon Hemoglobin variant
HbVar.222 protEffect HBB 3(NA2) His>Leu
HbVar.222 commonName Hb Graz
HbVar.222 ethnic Austrian
HbVar.222 phenoCommon Hemoglobin variant
HbVar.223 protEffect HBB 3(NA2) His>Pro
HbVar.223 commonName Hb Agrigente
HbVar.223 ethnic Sicilian
HbVar.223 phenoCommon Hemoglobin variant
HbVar.224 protEffect HBB 6(A2) Pro>Arg
HbVar.224 commonName Hb Warwickshire
HbVar.224 ethnic Scottish
HbVar.224 phenoCommon Hemoglobin variant
HbVar.225 protEffect HBB 6(A2) Pro>Ser
HbVar.225 commonName Hb Tyne
HbVar.225 ethnic English
HbVar.225 phenoCommon Hemoglobin variant
HbVar.226 protEffect HBB 7(A3) Glu>Val
HbVar.226 commonName Hb S
HbVar.226 ethnic Black
HbVar.226 ethnic American Indian
HbVar.226 phenoCommon Hemoglobin variant
HbVar.226 phenoCommon hemolytic Anemia
HbVar.226 phenoCommon Jaundice
HbVar.227 protEffect HBB 7(A3) Glu>Lys
HbVar.227 commonName Hb C
HbVar.227 ethnic Black
HbVar.227 phenoCommon Hemoglobin variant
HbVar.227 phenoCommon Target cells
HbVar.227 phenoCommon hemolytic Anemia
HbVar.227 phenoCommon mild Anemia
HbVar.227 phenoCommon Intraerythrocytic crystals
HbVar.228 protEffect HBB 7(A3) Glu>Ala
HbVar.228 commonName Hb G-Makassar
HbVar.228 ethnic Indonesian
HbVar.228 ethnic Thai
HbVar.228 phenoCommon Hemoglobin variant
HbVar.228 phenoCommon Normal
HbVar.229 protEffect HBB 7(A3) Glu>Gln
HbVar.229 commonName Hb Machida
HbVar.229 ethnic Japanese
HbVar.229 phenoCommon Hemoglobin variant
HbVar.230 protEffect HBB 8(A4) Glu>Gly
HbVar.230 commonName Hb G-San Jose
HbVar.230 ethnic Italian
HbVar.230 ethnic Mexican
HbVar.230 phenoCommon Hemoglobin variant
HbVar.230 phenoCommon Normal
HbVar.231 protEffect HBB 8(A4) Glu>Lys
HbVar.231 commonName Hb G-Siriraj
HbVar.231 ethnic Thai
HbVar.231 ethnic Chinese
HbVar.231 phenoCommon Hemoglobin variant
HbVar.232 protEffect HBB 9(A5) Lys>Thr
HbVar.232 commonName Hb Rio Grande
HbVar.232 ethnic Mexican
HbVar.232 phenoCommon Hemoglobin variant
HbVar.233 protEffect HBB 9(A5) Lys>Gln
HbVar.233 commonName Hb J-Luhe
HbVar.233 ethnic Chinese
HbVar.233 phenoCommon Hemoglobin variant
HbVar.234 protEffect HBB 9(A5) Lys>Glu
HbVar.234 commonName Hb N-Timone
HbVar.234 ethnic Italian
HbVar.234 ethnic French
HbVar.234 phenoCommon Hemoglobin variant
HbVar.235 protEffect HBB 9(A5) Lys>Met
HbVar.235 commonName Hb Nakano
HbVar.235 ethnic Japanese
HbVar.235 phenoCommon Hemoglobin variant
HbVar.236 protEffect HBB 10(A6) Ser>Cys
HbVar.236 commonName Hb Porto Alegre
HbVar.236 ethnic Argentine
HbVar.236 ethnic Brazilian
HbVar.236 ethnic Canary Islands
HbVar.236 phenoCommon Hemoglobin variant
HbVar.236 phenoCommon Normal
HbVar.237 protEffect HBB 11(A7) Ala>Asp
HbVar.237 commonName Hb Ankara
HbVar.237 ethnic Turkish
HbVar.237 ethnic Japanese
HbVar.237 phenoCommon Hemoglobin variant
HbVar.238 protEffect HBB 11(A7) Ala>Val
HbVar.238 commonName Hb Iraq-Halabja
HbVar.238 ethnic Iraqi
HbVar.238 phenoCommon Hemoglobin variant
HbVar.239 protEffect HBB 12(A8) Val>Ile
HbVar.239 commonName Hb Hamilton
HbVar.239 ethnic Austrian
HbVar.239 ethnic Chinese
HbVar.239 ethnic Sardinian
HbVar.239 phenoCommon Hemoglobin variant
HbVar.240 protEffect HBB 12(A8) Val>Asp
HbVar.240 commonName Hb Windsor
HbVar.240 ethnic Anglo-Saxon
HbVar.240 phenoCommon Hemoglobin variant
HbVar.241 protEffect HBB 12(A8) Val>Phe
HbVar.241 commonName Hb Washtenaw
HbVar.241 ethnic Hungarian
HbVar.241 ethnic American
HbVar.241 phenoCommon Hemoglobin variant
HbVar.242 protEffect HBB 14(A10) Ala>Asp
HbVar.242 commonName Hb J-Lens
HbVar.242 ethnic French
HbVar.242 phenoCommon Hemoglobin variant
HbVar.243 protEffect HBB 15(A11) Leu>Arg
HbVar.243 commonName Hb Sogn
HbVar.243 ethnic Norwegian
HbVar.243 ethnic American
HbVar.243 phenoCommon Hemoglobin variant
HbVar.244 protEffect HBB 15(A11) Leu>Pro
HbVar.244 commonName Hb Saki
HbVar.244 ethnic African
HbVar.244 ethnic Caucasian
HbVar.244 phenoCommon Hemoglobin variant
HbVar.245 protEffect HBB 16(A12) Trp>Arg
HbVar.245 commonName Hb Belfast
HbVar.245 ethnic French
HbVar.245 ethnic Irish
HbVar.245 ethnic Italian
HbVar.245 phenoCommon Hemoglobin variant
HbVar.246 protEffect HBB 16(A12) Trp>Gly
HbVar.246 commonName Hb Randwick
HbVar.246 ethnic North Italian
HbVar.246 phenoCommon Hemoglobin variant
HbVar.247 protEffect HBB 17(A13) Gly>Asp
HbVar.247 commonName Hb J-Baltimore
HbVar.247 alias Hb J-Trinidad
HbVar.247 alias Hb J-Ireland
HbVar.247 alias Hb N-New Haven
HbVar.247 alias Hb J-Georgia
HbVar.247 ethnic Black
HbVar.247 ethnic English
HbVar.247 ethnic Dutch
HbVar.247 ethnic French
HbVar.247 ethnic Swedish
HbVar.247 ethnic Spanish
HbVar.247 phenoCommon Hemoglobin variant
HbVar.248 protEffect HBB 17(A13) Gly>Arg
HbVar.248 commonName Hb D-Bushman
HbVar.248 ethnic Kalahari Bushman
HbVar.248 phenoCommon Hemoglobin variant
HbVar.249 protEffect HBB 18(A14) Lys>Glu
HbVar.249 commonName Hb Nagasaki
HbVar.249 ethnic Japanese
HbVar.249 phenoCommon Hemoglobin variant
HbVar.250 protEffect HBB 18(A14) Lys>Asn
HbVar.250 commonName Hb J-Amiens
HbVar.250 ethnic Spanish
HbVar.250 ethnic Japanese
HbVar.250 phenoCommon Hemoglobin variant
HbVar.251 protEffect HBB 18(A14) Lys>Gln
HbVar.251 commonName Hb Nikosia
HbVar.251 ethnic Cypriot
HbVar.251 phenoCommon Hemoglobin variant
HbVar.252 protEffect HBB 19(A15) Val>Met
HbVar.252 commonName Hb Baden
HbVar.252 ethnic East German
HbVar.252 phenoCommon Hemoglobin variant
HbVar.253 protEffect HBB 19(A15) Val>Gly
HbVar.253 commonName Hb Sinai-Baltimore
HbVar.253 ethnic Black
HbVar.253 phenoCommon Hemoglobin variant
HbVar.254 protEffect HBB 20(B1) Asn>Lys
HbVar.254 commonName Hb D-Ouled Rabah
HbVar.254 ethnic Algerian
HbVar.254 ethnic Tuareg tribe
HbVar.254 phenoCommon Hemoglobin variant
HbVar.255 protEffect HBB 20(B1) Asn>Asp
HbVar.255 commonName Hb Alamo
HbVar.255 ethnic Black
HbVar.255 phenoCommon Hemoglobin variant
HbVar.256 protEffect HBB 20(B1) Asn>Ser
HbVar.256 commonName Hb Malay
HbVar.256 alias Codon 19 (A->G); AAC(Asn)->AGC(Ser) beta+
HbVar.256 ethnic Thai
HbVar.256 ethnic Malaysian
HbVar.256 ethnic Singapore
HbVar.256 ethnic Chinese
HbVar.256 phenoCommon beta+ thalassemia
HbVar.256 phenoCommon moderate Microcytosis
HbVar.256 phenoCommon moderate Hypochromia
HbVar.257 protEffect HBB 21(B2) Val>Met
HbVar.257 commonName Hb Olympia
HbVar.257 ethnic Caucasian
HbVar.257 ethnic Algerian
HbVar.257 ethnic French
HbVar.257 ethnic Tunisian
HbVar.257 phenoCommon Hemoglobin variant
HbVar.258 protEffect HBB 21(B2) Val>Glu
HbVar.258 commonName Hb Trollhattan
HbVar.258 ethnic Swedish
HbVar.258 phenoCommon Hemoglobin variant
HbVar.259 protEffect HBB 21(B2) Val>Gly
HbVar.259 commonName Hb Uxbridge
HbVar.259 ethnic English
HbVar.259 phenoCommon Hemoglobin variant
HbVar.260 protEffect HBB 22(B3) Asp>Tyr
HbVar.260 commonName Hb Yusa
HbVar.260 ethnic Japanese
HbVar.260 phenoCommon Hemoglobin variant
HbVar.261 protEffect HBB 22(B3) Asp>Gly
HbVar.261 commonName Hb Connecticut
HbVar.261 ethnic Polish
HbVar.261 phenoCommon Hemoglobin variant
HbVar.262 protEffect HBB 22(B3) Asp>Asn
HbVar.262 commonName Hb Cocody
HbVar.262 ethnic Ivory Coast
HbVar.262 ethnic Japanese
HbVar.262 phenoCommon Hemoglobin variant
HbVar.263 protEffect HBB 22(B3) Asp>His
HbVar.263 commonName Hb Karlskoga
HbVar.263 ethnic Swedish
HbVar.263 ethnic American
HbVar.263 phenoCommon Hemoglobin variant
HbVar.264 protEffect HBB 23(B4) Glu>Lys
HbVar.264 commonName Hb E-Saskatoon
HbVar.264 ethnic Greek
HbVar.264 ethnic Japanese
HbVar.264 ethnic Scottish
HbVar.264 ethnic Turkish
HbVar.264 phenoCommon Hemoglobin variant
HbVar.265 protEffect HBB 23(B4) Glu>Gly
HbVar.265 commonName Hb G-Taipei
HbVar.265 ethnic Chinese
HbVar.265 phenoCommon Hemoglobin variant
HbVar.266 protEffect HBB 23(B4) Glu>Ala
HbVar.266 commonName Hb G-Coushatta
HbVar.266 alias Hb G-Saskatoon
HbVar.266 alias Hb G-Hsin Chu
HbVar.266 alias Hb G-Taegu
HbVar.266 ethnic American Indian
HbVar.266 ethnic Algerian
HbVar.266 ethnic Chinese
HbVar.266 ethnic Japanese
HbVar.266 ethnic Korean
HbVar.266 ethnic Thai
HbVar.266 ethnic Turkish
HbVar.266 ethnic Egyptian
HbVar.266 phenoCommon Hemoglobin variant
HbVar.266 phenoCommon Normal
HbVar.267 protEffect HBB 23(B4) Glu>Gln
HbVar.267 commonName Hb D-Iran
HbVar.267 ethnic Iranian
HbVar.267 ethnic Pakistani
HbVar.267 ethnic Jamaican
HbVar.267 ethnic Italian
HbVar.267 phenoCommon Hemoglobin variant
HbVar.268 protEffect HBB 23(B4) Glu>Val
HbVar.268 commonName Hb D-Granada
HbVar.268 ethnic Gypsy
HbVar.268 phenoCommon Hemoglobin variant
HbVar.269 protEffect HBB 24(B5) Val>Asp
HbVar.269 commonName Hb Strasbourg
HbVar.269 ethnic Portuguese
HbVar.269 phenoCommon Hemoglobin variant
HbVar.270 protEffect HBB 24(B5) Val>Gly
HbVar.270 commonName Hb Miyashiro
HbVar.270 ethnic Japanese
HbVar.270 phenoCommon Hemoglobin variant
HbVar.271 protEffect HBB 24(B5) Val>Phe
HbVar.271 commonName Hb Palmerston North
HbVar.271 ethnic New Zealand
HbVar.271 ethnic American
HbVar.271 phenoCommon Hemoglobin variant
HbVar.272 protEffect HBB 25(B6) Gly>Arg
HbVar.272 commonName Hb Riverdale-Bronx
HbVar.272 ethnic German
HbVar.272 ethnic Jewish
HbVar.272 phenoCommon Hemoglobin variant
HbVar.273 protEffect HBB 25(B6) Gly>Val
HbVar.273 commonName Hb Savannah
HbVar.273 ethnic Caucasian
HbVar.273 phenoCommon Hemoglobin variant
HbVar.274 protEffect HBB 25(B6) Gly>Asp
HbVar.274 commonName Hb Moscva
HbVar.274 ethnic Russian
HbVar.274 phenoCommon Hemoglobin variant
HbVar.275 protEffect HBB 26(B7) Gly>Arg
HbVar.275 commonName Hb G-Taiwan-Ami
HbVar.275 ethnic Aborigine
HbVar.275 phenoCommon Hemoglobin variant
HbVar.276 protEffect HBB 26(B7) Gly>Asp
HbVar.276 commonName Hb J-Auckland
HbVar.276 ethnic Scandinavian
HbVar.276 ethnic Scottish
HbVar.276 phenoCommon Hemoglobin variant
HbVar.277 protEffect HBB 27(B8) Glu>Lys
HbVar.277 commonName Hb E
HbVar.277 alias Codon 26 (GAG->AAG) beta+
HbVar.277 ethnic Far East
HbVar.277 phenoCommon Thalassemia
HbVar.277 hap -++-+++-
HbVar.277 hap +-----+-
HbVar.277 hap -++-++-+
HbVar.277 hap +-++-++-
HbVar.277 hap +.----++
HbVar.277 phenoCommon mild Anemia
HbVar.277 phenoCommon hemolytic Anemia
HbVar.277 phenoCommon Target cells
HbVar.278 protEffect HBB 27(B8) Glu>Val
HbVar.278 commonName Hb Henri Mondor
HbVar.278 ethnic African
HbVar.278 phenoCommon Hemoglobin variant
HbVar.279 protEffect HBB 27(B8) Glu>Gly
HbVar.279 commonName Hb Aubenas
HbVar.279 ethnic French
HbVar.279 phenoCommon Hemoglobin variant
HbVar.280 protEffect HBB 28(B9) Ala>Asp
HbVar.280 commonName Hb Volga
HbVar.280 alias Hb Drenthe
HbVar.280 ethnic Russian
HbVar.280 ethnic Dutch
HbVar.280 ethnic Egyptian
HbVar.280 phenoCommon Hemoglobin variant
HbVar.281 protEffect HBB 28(B9) Ala>Ser
HbVar.281 commonName Hb Knossos
HbVar.281 alias Codon 27 (G->T); GCC(Ala)->TCC(Ser) beta+
HbVar.281 ethnic Jordan
HbVar.281 ethnic Egyptian
HbVar.281 ethnic Tunisian
HbVar.281 ethnic Algerian
HbVar.281 phenoCommon beta+ thalassemia
HbVar.281 phenoCommon moderate Anemia
HbVar.281 phenoCommon marked Microcytosis
HbVar.281 phenoCommon marked Hypochromia
HbVar.282 protEffect HBB 28(B9) Ala>Val
HbVar.282 commonName Hb Grange-Blanche
HbVar.282 ethnic Portuguese
HbVar.282 phenoCommon Hemoglobin variant
HbVar.283 protEffect HBB 28(B9) Ala>Gly
HbVar.283 commonName Hb Siirt
HbVar.283 ethnic Kurdish
HbVar.283 phenoCommon Hemoglobin variant
HbVar.284 protEffect HBB 29(B10) Leu>Gln
HbVar.284 commonName Hb Saint Louis
HbVar.284 ethnic Yugoslavian
HbVar.284 ethnic Slovakian
HbVar.284 ethnic French
HbVar.284 phenoCommon Hemoglobin variant
HbVar.285 protEffect HBB 29(B10) Leu>Pro
HbVar.285 commonName Hb Genova
HbVar.285 alias Hb Hyogo
HbVar.285 ethnic European
HbVar.285 ethnic East Indian
HbVar.285 ethnic Kenyan
HbVar.285 ethnic Cuban
HbVar.285 ethnic Libyan
HbVar.285 ethnic Japanese
HbVar.285 phenoCommon Hemoglobin variant
HbVar.286 protEffect HBB 29(B10) Leu>Arg
HbVar.286 commonName Hb Chesterfield
HbVar.286 alias Codon 28 (T->G); CTG(Leu)->CGG(Arg) beta+ (inclusion body or dominant beta-thal)
HbVar.286 ethnic English
HbVar.286 phenoCommon beta+ thalassemia
HbVar.287 protEffect HBB 29(B10) Leu>Met
HbVar.287 commonName Hb Chile
HbVar.287 ethnic American Indian
HbVar.287 phenoCommon Hemoglobin variant
HbVar.288 protEffect HBB 30(B11) Gly>Asp
HbVar.288 commonName Hb Lufkin
HbVar.288 ethnic Black
HbVar.288 phenoCommon Hemoglobin variant
HbVar.289 protEffect HBB 31(B12) Arg>Ser
HbVar.289 commonName Hb Tacoma
HbVar.289 ethnic Russian
HbVar.289 ethnic Finnish
HbVar.289 ethnic Swedish
HbVar.289 ethnic American
HbVar.289 phenoCommon Hemoglobin variant
HbVar.290 protEffect HBB 31(B12) Arg>Thr
HbVar.290 commonName Hb Monroe
HbVar.290 alias Hb Kairouan
HbVar.290 alias IVS-I (-1) or codon 30 (G->C); AG^GTTGGT->AC^GTTGGT beta0
HbVar.290 ethnic Black
HbVar.290 ethnic Libyan
HbVar.290 ethnic Tunisian
HbVar.290 phenoCommon beta0 thalassemia
HbVar.291 protEffect HBB 32(B13) Leu>Pro
HbVar.291 commonName Hb Yokohama
HbVar.291 ethnic Japanese
HbVar.291 ethnic Serbian
HbVar.291 ethnic Pakistani
HbVar.291 phenoCommon Hemoglobin variant
HbVar.292 protEffect HBB 32(B13) Leu>Arg
HbVar.292 commonName Hb Hakkari
HbVar.292 ethnic Turkish
HbVar.292 ethnic Yugoslavian
HbVar.292 phenoCommon Hemoglobin variant
HbVar.293 protEffect HBB 33(B14) Leu>Pro
HbVar.293 commonName Hb Perth
HbVar.293 alias Hb Kobe
HbVar.293 alias Hb Abraham Lincoln
HbVar.293 ethnic Australian
HbVar.293 ethnic Black
HbVar.293 ethnic French
HbVar.293 ethnic Hottentot
HbVar.293 ethnic Taiwanese
HbVar.293 phenoCommon Hemoglobin variant
HbVar.294 protEffect HBB 33(B14) Leu>Arg
HbVar.294 commonName Hb Castilla
HbVar.294 ethnic Spanish
HbVar.294 ethnic Asian Indian
HbVar.294 phenoCommon Hemoglobin variant
HbVar.295 protEffect HBB 33(B14) Leu>Val
HbVar.295 commonName Hb Muscat
HbVar.295 ethnic Arabian
HbVar.295 phenoCommon Hemoglobin variant
HbVar.296 protEffect HBB 35(B16) Val>Phe
HbVar.296 commonName Hb Pitie-Salpetriere
HbVar.296 ethnic Japanese
HbVar.296 ethnic French
HbVar.296 phenoCommon Hemoglobin variant
HbVar.297 protEffect HBB 36(C1) Tyr>Phe
HbVar.297 commonName Hb Philly
HbVar.297 ethnic German
HbVar.297 ethnic French
HbVar.297 ethnic Italian
HbVar.297 phenoCommon Hemoglobin variant
HbVar.298 protEffect HBB 37(C2) Pro>Thr
HbVar.298 commonName Hb Linkoping
HbVar.298 alias Hb Meilahti
HbVar.298 alias Hb Finlandia
HbVar.298 ethnic Finnish
HbVar.298 ethnic Dutch
HbVar.298 phenoCommon Hemoglobin variant
HbVar.299 protEffect HBB 37(C2) Pro>Ser
HbVar.299 commonName Hb North Chicago
HbVar.299 ethnic Black
HbVar.299 phenoCommon Hemoglobin variant
HbVar.300 protEffect HBB 37(C2) Pro>Arg
HbVar.300 commonName Hb Sunnybrook
HbVar.300 ethnic European
HbVar.300 phenoCommon Hemoglobin variant
HbVar.301 protEffect HBB 37(C2) Pro>His
HbVar.301 commonName Hb Vila Real
HbVar.301 ethnic Portuguese
HbVar.301 phenoCommon Hemoglobin variant
HbVar.302 protEffect HBB 38(C3) Trp>Ser
HbVar.302 commonName Hb Hirose
HbVar.302 ethnic Japanese
HbVar.302 phenoCommon Hemoglobin variant
HbVar.303 protEffect HBB 38(C3) Trp>Arg
HbVar.303 commonName Hb Rothschild
HbVar.303 ethnic Caucasian
HbVar.303 phenoCommon Hemoglobin variant
HbVar.304 protEffect HBB 38(C3) Trp>Gly
HbVar.304 commonName Hb Howick
HbVar.304 phenoCommon Hemoglobin variant
HbVar.305 protEffect HBB 39(C4) Thr>Pro
HbVar.305 commonName Hb Hazebrouck
HbVar.305 ethnic French
HbVar.305 phenoCommon Hemoglobin variant
HbVar.306 protEffect HBB 39(C4) Thr>Asn
HbVar.306 commonName Hb Hinwil
HbVar.306 ethnic Swiss
HbVar.306 phenoCommon Hemoglobin variant
HbVar.307 protEffect HBB 40(C5) Gln>Lys
HbVar.307 commonName Hb Alabama
HbVar.307 ethnic Black
HbVar.307 phenoCommon Hemoglobin variant
HbVar.308 protEffect HBB 40(C5) Gln>Glu
HbVar.308 commonName Hb Vaasa
HbVar.308 ethnic Finnish
HbVar.308 phenoCommon Hemoglobin variant
HbVar.309 protEffect HBB 40(C5) Gln>Arg
HbVar.309 commonName Hb Tianshui
HbVar.309 ethnic Chinese
HbVar.309 phenoCommon Hemoglobin variant
HbVar.310 protEffect HBB 41(C6) Arg>Lys
HbVar.310 commonName Hb Athens-GA
HbVar.310 alias Hb Waco
HbVar.310 ethnic Caucasian
HbVar.310 phenoCommon Hemoglobin variant
HbVar.311 protEffect HBB 41(C6) Arg>Ser
HbVar.311 commonName Hb Austin
HbVar.311 ethnic Mexican
HbVar.311 phenoCommon Hemoglobin variant
HbVar.312 protEffect HBB 42(C7) Phe>Tyr
HbVar.312 commonName Hb Mequon
HbVar.312 ethnic English
HbVar.312 ethnic Irish
HbVar.312 phenoCommon Hemoglobin variant
HbVar.313 protEffect HBB 42(C7) Phe>Ser
HbVar.313 commonName Hb Denver
HbVar.313 ethnic Caucasian
HbVar.313 phenoCommon Hemoglobin variant
HbVar.314 protEffect HBB 43(CD1) Phe>Ser
HbVar.314 commonName Hb Hammersmith
HbVar.314 alias Hb Chiba
HbVar.314 ethnic American Indian
HbVar.314 ethnic Caucasian
HbVar.314 ethnic African-American
HbVar.314 ethnic English
HbVar.314 ethnic Japanese
HbVar.314 phenoCommon Hemoglobin variant
HbVar.315 protEffect HBB 43(CD1) Phe>Leu
HbVar.315 commonName Hb Louisville
HbVar.315 alias Hb Bucuresti
HbVar.315 ethnic English
HbVar.315 ethnic Irish
HbVar.315 ethnic Rumanian
HbVar.315 ethnic Cuban
HbVar.315 ethnic Canadian
HbVar.315 phenoCommon Hemoglobin variant
HbVar.316 protEffect HBB 43(CD1) Phe>Val
HbVar.316 commonName Hb Sendagi
HbVar.316 alias Hb Warsaw
HbVar.316 ethnic Japanese
HbVar.316 ethnic Polish
HbVar.316 ethnic American
HbVar.316 phenoCommon Hemoglobin variant
HbVar.317 protEffect HBB 44(CD2) Glu>Ala
HbVar.317 commonName Hb G-Galveston
HbVar.317 alias Hb G-Port Arthur
HbVar.317 alias Hb G-Texas
HbVar.317 ethnic Black
HbVar.317 phenoCommon Hemoglobin variant
HbVar.318 protEffect HBB 44(CD2) Glu>Gln
HbVar.318 commonName Hb Hoshida
HbVar.318 alias Hb Chaya
HbVar.318 ethnic Japanese
HbVar.318 ethnic Yugoslavian
HbVar.318 phenoCommon Hemoglobin variant
HbVar.319 protEffect HBB 45(CD3) Ser>Cys
HbVar.319 commonName Hb Mississippi
HbVar.319 ethnic Chinese
HbVar.319 phenoCommon Hemoglobin variant
HbVar.320 protEffect HBB 46(CD4) Phe>Ser
HbVar.320 commonName Hb Cheverly
HbVar.320 ethnic Italian
HbVar.320 ethnic Caucasian
HbVar.320 phenoCommon Hemoglobin variant
HbVar.321 protEffect HBB 46(CD4) Phe>Cys
HbVar.321 commonName Hb Arta
HbVar.321 ethnic Greek
HbVar.321 phenoCommon Hemoglobin variant
HbVar.322 protEffect HBB 47(CD5) Gly>Glu
HbVar.322 commonName Hb K-Ibadan
HbVar.322 ethnic African Yoruba
HbVar.322 ethnic Italian
HbVar.322 phenoCommon Hemoglobin variant
HbVar.323 protEffect HBB 47(CD5) Gly>Arg
HbVar.323 commonName Hb Gainesville-GA
HbVar.323 ethnic Black
HbVar.323 phenoCommon Hemoglobin variant
HbVar.324 protEffect HBB 48(CD6) Asp>Asn
HbVar.324 commonName Hb G-Copenhagen
HbVar.324 ethnic Danish
HbVar.324 ethnic Sicilian
HbVar.324 ethnic Black
HbVar.324 ethnic American
HbVar.324 phenoCommon Hemoglobin variant
HbVar.325 protEffect HBB 48(CD6) Asp>Gly
HbVar.325 commonName Hb Gavello
HbVar.325 ethnic Italian
HbVar.325 phenoCommon Hemoglobin variant
HbVar.326 protEffect HBB 48(CD6) Asp>Ala
HbVar.326 commonName Hb Avicenna
HbVar.326 ethnic Iranian
HbVar.326 phenoCommon Hemoglobin variant
HbVar.327 protEffect HBB 48(CD6) Asp>Tyr
HbVar.327 commonName Hb Maputo
HbVar.327 ethnic Mozambique
HbVar.327 ethnic Caucasian
HbVar.327 phenoCommon Hemoglobin variant
HbVar.328 protEffect HBB 49(CD7) Leu>Arg
HbVar.328 commonName Hb Okaloosa
HbVar.328 ethnic Caucasian
HbVar.328 phenoCommon Hemoglobin variant
HbVar.329 protEffect HBB 49(CD7) Leu>Pro
HbVar.329 commonName Hb Bab-Saadoun
HbVar.329 ethnic Tunisian
HbVar.329 phenoCommon Hemoglobin variant
HbVar.330 protEffect HBB 50(CD8) Ser>Phe
HbVar.330 commonName Hb Las Palmas
HbVar.330 ethnic Canary Islands
HbVar.330 phenoCommon Hemoglobin variant
HbVar.331 protEffect HBB 51(D1) Thr>Lys
HbVar.331 commonName Hb Edmonton
HbVar.331 ethnic Ukrainian
HbVar.331 phenoCommon Hemoglobin variant
HbVar.332 protEffect HBB 52(D2) Pro>Arg
HbVar.332 commonName Hb Willamette
HbVar.332 ethnic Black
HbVar.332 phenoCommon Hemoglobin variant
HbVar.333 protEffect HBB 52(D2) Pro>His
HbVar.333 commonName Hb North Manchester
HbVar.333 phenoCommon Hemoglobin variant
HbVar.334 protEffect HBB 53(D3) Asp>Asn
HbVar.334 commonName Hb Osu Christiansborg
HbVar.334 ethnic Black
HbVar.334 ethnic Ghanaian
HbVar.334 ethnic Greek
HbVar.334 ethnic Iranian
HbVar.334 phenoCommon Hemoglobin variant
HbVar.335 protEffect HBB 53(D3) Asp>Ala
HbVar.335 commonName Hb Ocho Rios
HbVar.335 ethnic Jamaican
HbVar.335 phenoCommon Hemoglobin variant
HbVar.336 protEffect HBB 53(D3) Asp>His
HbVar.336 commonName Hb Summer Hill
HbVar.336 ethnic Lebanese
HbVar.336 ethnic Turkish
HbVar.336 phenoCommon Hemoglobin variant
HbVar.337 protEffect HBB 53(D3) Asp>Gly
HbVar.337 commonName Hb Hokusetsu
HbVar.337 alias Hb Kurashiki-II
HbVar.337 ethnic Japanese
HbVar.337 ethnic German
HbVar.337 phenoCommon Hemoglobin variant
HbVar.338 protEffect HBB 53(D3) Asp>Val
HbVar.338 commonName Hb Akron
HbVar.338 ethnic American Indian
HbVar.338 ethnic French
HbVar.338 ethnic Polish
HbVar.338 phenoCommon Hemoglobin variant
HbVar.339 protEffect HBB 54(D4) Ala>Thr
HbVar.339 commonName Hb Acharnes
HbVar.339 ethnic Greek
HbVar.339 phenoCommon Hemoglobin variant
HbVar.340 protEffect HBB 55(D5) Val>Asp
HbVar.340 commonName Hb Jacksonville
HbVar.340 ethnic Black
HbVar.340 phenoCommon Hemoglobin variant
HbVar.341 protEffect HBB 56(D6) Met>Lys
HbVar.341 commonName Hb Matera
HbVar.341 ethnic Italian
HbVar.341 phenoCommon Hemoglobin variant
HbVar.342 protEffect HBB 57(D7) Gly>Asp
HbVar.342 commonName Hb J-Bangkok
HbVar.342 alias Hb J-Manado
HbVar.342 alias Hb J-Meinung
HbVar.342 alias Hb J-Korat
HbVar.342 ethnic Black
HbVar.342 ethnic Chinese
HbVar.342 ethnic Indonesian
HbVar.342 ethnic Thai
HbVar.342 phenoCommon Hemoglobin variant
HbVar.343 protEffect HBB 57(D7) Gly>Arg
HbVar.343 commonName Hb Hamadan
HbVar.343 ethnic Japanese
HbVar.343 ethnic Iranian
HbVar.343 ethnic French Caucasian
HbVar.343 ethnic Turkish
HbVar.343 phenoCommon Hemoglobin variant
HbVar.344 protEffect HBB 58(E1) Asn>Lys
HbVar.344 commonName Hb G-Ferrara
HbVar.344 ethnic Italian
HbVar.344 phenoCommon Hemoglobin variant
HbVar.345 protEffect HBB 58(E1) Asn>Asp
HbVar.345 commonName Hb J-Daloa
HbVar.345 ethnic Bete tribe
HbVar.345 phenoCommon Hemoglobin variant
HbVar.346 protEffect HBB 59(E2) Pro>Arg
HbVar.346 commonName Hb Dhofar
HbVar.346 alias Hb Yukuhashi
HbVar.346 ethnic Qara tribesman
HbVar.346 phenoCommon Hemoglobin variant
HbVar.347 protEffect HBB 60(E3) Lys>Glu
HbVar.347 commonName Hb I-High Wycombe
HbVar.347 ethnic English
HbVar.347 ethnic German
HbVar.347 ethnic Japanese
HbVar.347 ethnic Scottish
HbVar.347 phenoCommon Hemoglobin variant
HbVar.348 protEffect HBB 60(E3) Lys>Thr
HbVar.348 commonName Hb J-Kaohsiung
HbVar.348 alias Hb J-Honolulu
HbVar.348 ethnic Chinese
HbVar.348 phenoCommon Hemoglobin variant
HbVar.350 protEffect HBB 61(E4) Val>Leu
HbVar.350 commonName Hb Yatsushiro
HbVar.350 ethnic Japanese
HbVar.350 phenoCommon Hemoglobin variant
HbVar.351 protEffect HBB 61(E4) Val>Ala
HbVar.351 commonName Hb Collingwood
HbVar.351 ethnic Greek
HbVar.351 phenoCommon Hemoglobin variant
HbVar.352 protEffect HBB 61(E4) Val>Glu
HbVar.352 commonName Hb Cagliari
HbVar.352 alias Codon 60 (T->A); GTG(Val)->GAG(Glu) beta+ (abnormal betaX identified by IEF after labeling)
HbVar.352 ethnic Italian
HbVar.352 phenoCommon beta+ thalassemia
HbVar.353 protEffect HBB 62(E5) Lys>Glu
HbVar.353 commonName Hb N-Seattle
HbVar.353 ethnic Black
HbVar.353 phenoCommon Hemoglobin variant
HbVar.354 protEffect HBB 62(E5) Lys>Asn
HbVar.354 commonName Hb Hikari
HbVar.354 ethnic Japanese
HbVar.354 phenoCommon Hemoglobin variant
HbVar.355 protEffect HBB 62(E5) Lys>Met
HbVar.355 commonName Hb Bologna
HbVar.355 ethnic North Italian
HbVar.355 phenoCommon Hemoglobin variant
HbVar.356 protEffect HBB 63(E6) Ala>Pro
HbVar.356 commonName Hb Duarte
HbVar.356 ethnic German
HbVar.356 phenoCommon Hemoglobin variant
HbVar.357 protEffect HBB 63(E6) Ala>Asp
HbVar.357 commonName Hb J-Europa
HbVar.357 ethnic Italian
HbVar.357 phenoCommon Hemoglobin variant
HbVar.358 protEffect HBB 64(E7) His>Arg
HbVar.358 commonName Hb Zurich
HbVar.358 ethnic Swiss
HbVar.358 ethnic American
HbVar.358 ethnic Japanese
HbVar.358 phenoCommon Hemoglobin variant
HbVar.359 protEffect HBB 64(E7) His>Tyr
HbVar.359 commonName Hb M-Saskatoon
HbVar.359 alias Hb M-Emory
HbVar.359 alias Hb M-Kurume
HbVar.359 alias Hb M-Radom
HbVar.359 alias Hb M-Arhus
HbVar.359 alias Hb Leipzig
HbVar.359 alias Hb Horlein-Weber
HbVar.359 alias Hb Novi Sad
HbVar.359 alias Hb M-Erlangen
HbVar.359 alias Hb M-Hamburg
HbVar.359 alias Hb M-Hida
HbVar.359 alias Hb M-Chicago
HbVar.359 ethnic American
HbVar.359 ethnic Japanese
HbVar.359 ethnic English
HbVar.359 ethnic Danish
HbVar.359 ethnic Norwegian
HbVar.359 ethnic Yugoslavian
HbVar.359 ethnic Canadian
HbVar.359 ethnic Polish
HbVar.359 ethnic German
HbVar.359 phenoCommon Hemoglobin variant
HbVar.360 protEffect HBB 64(E7) His>Pro
HbVar.360 commonName Hb Bicetre
HbVar.360 ethnic American
HbVar.360 ethnic French
HbVar.360 phenoCommon Hemoglobin variant
HbVar.361 protEffect HBB 64(E7) His>Asn
HbVar.361 commonName Hb Hana
HbVar.361 ethnic Czech
HbVar.361 phenoCommon Hemoglobin variant
HbVar.362 protEffect HBB 65(E8) Gly>Asp
HbVar.362 commonName Hb J-Calabria
HbVar.362 alias Hb J-Bari
HbVar.362 alias Hb J-Cosenza
HbVar.362 ethnic French
HbVar.362 ethnic Chinese
HbVar.362 phenoCommon Hemoglobin variant
HbVar.363 protEffect HBB 66(E9) Lys>Asn
HbVar.363 commonName Hb J-Sicilia
HbVar.363 ethnic Sicilian
HbVar.363 phenoCommon Hemoglobin variant
HbVar.364 protEffect HBB 66(E9) Lys>Gln
HbVar.364 commonName Hb J-Cairo
HbVar.364 ethnic Egyptian
HbVar.364 phenoCommon Hemoglobin variant
HbVar.365 protEffect HBB 66(E9) Lys>Met
HbVar.365 commonName Hb J-Antakya
HbVar.365 ethnic Southern Turkish
HbVar.365 phenoCommon Hemoglobin variant
HbVar.366 protEffect HBB 67(E10) Lys>Glu
HbVar.366 commonName Hb I-Toulouse
HbVar.366 ethnic French
HbVar.366 ethnic Nicaraguan
HbVar.366 phenoCommon Hemoglobin variant
HbVar.367 protEffect HBB 67(E10) Lys>Thr
HbVar.367 commonName Hb Chico
HbVar.367 ethnic American
HbVar.367 phenoCommon Hemoglobin variant
HbVar.368 protEffect HBB 68(E11) Val>Glu
HbVar.368 commonName Hb M-Milwaukee-I
HbVar.368 phenoCommon Hemoglobin variant
HbVar.369 protEffect HBB 68(E11) Val>Met OR HBB 68(E11) Val>Asp
HbVar.369 commonName Hb Bristol
HbVar.369 alias Hb Bristol-Alesha
HbVar.369 ethnic English
HbVar.369 phenoCommon Hemoglobin variant
HbVar.370 protEffect HBB 68(E11) Val>Met
HbVar.370 commonName Hb Alesha
HbVar.370 alias Hb Bristol-Alesha
HbVar.370 ethnic Russian
HbVar.370 phenoCommon Hemoglobin variant
HbVar.371 protEffect HBB 68(E11) Val>Ala
HbVar.371 commonName Hb Sydney
HbVar.371 ethnic German
HbVar.371 ethnic English
HbVar.371 phenoCommon Hemoglobin variant
HbVar.372 protEffect HBB 68(E11) Val>Gly
HbVar.372 commonName Hb Manukau
HbVar.372 ethnic Niuean
HbVar.372 ethnic Maori
HbVar.372 phenoCommon Hemoglobin variant
HbVar.373 protEffect HBB 69(E12) Leu>Pro
HbVar.373 commonName Hb Mizuho
HbVar.373 ethnic Japanese
HbVar.373 ethnic Italian
HbVar.373 ethnic Caucasian
HbVar.373 ethnic Dutch
HbVar.373 phenoCommon Hemoglobin variant
HbVar.374 protEffect HBB 69(E12) Leu>His
HbVar.374 commonName Hb Brisbane
HbVar.374 alias Hb Great Lakes
HbVar.374 ethnic New Zealand
HbVar.374 ethnic Caucasian
HbVar.374 phenoCommon Hemoglobin variant
HbVar.375 protEffect HBB 69(E12) Leu>Phe
HbVar.375 commonName Hb Loves Park
HbVar.375 ethnic Italian
HbVar.375 phenoCommon Hemoglobin variant
HbVar.376 protEffect HBB 70(E13) Gly>Asp
HbVar.376 commonName Hb Rambam
HbVar.376 alias Hb J-Cambridge
HbVar.376 ethnic Argentine
HbVar.376 ethnic Bedouin
HbVar.376 ethnic English
HbVar.376 ethnic German
HbVar.376 phenoCommon Hemoglobin variant
HbVar.377 protEffect HBB 70(E13) Gly>Ser
HbVar.377 commonName Hb City of Hope
HbVar.377 ethnic Caucasian
HbVar.377 ethnic Italian
HbVar.377 ethnic Turkish
HbVar.377 ethnic Jewish
HbVar.377 phenoCommon Hemoglobin variant
HbVar.378 protEffect HBB 70(E13) Gly>Arg
HbVar.378 commonName Hb Kenitra
HbVar.378 ethnic Moroccan
HbVar.378 phenoCommon Hemoglobin variant
HbVar.379 protEffect HBB 71(E14) Ala>Asp
HbVar.379 commonName Hb Seattle
HbVar.379 ethnic Caucasian
HbVar.379 ethnic Ukrainian
HbVar.379 phenoCommon Hemoglobin variant
HbVar.380 protEffect HBB 72(E15) Phe>Ser
HbVar.380 commonName Hb Christchurch
HbVar.380 ethnic Australian
HbVar.380 ethnic Japanese
HbVar.380 phenoCommon Hemoglobin variant
HbVar.381 protEffect HBB 73(E16) Ser>Arg
HbVar.381 commonName Hb Headington
HbVar.381 ethnic Asian Indian
HbVar.381 phenoCommon Hemoglobin variant
HbVar.382 protEffect HBB 74(E17) Asp>Tyr
HbVar.382 commonName Hb Vancouver
HbVar.382 ethnic Chinese
HbVar.382 phenoCommon Hemoglobin variant
HbVar.383 protEffect HBB 74(E17) Asp>Asn
HbVar.383 commonName Hb G-Accra
HbVar.383 alias Hb Korle-Bu
HbVar.383 ethnic Black
HbVar.383 phenoCommon Hemoglobin variant
HbVar.384 protEffect HBB 74(E17) Asp>Val
HbVar.384 commonName Hb Mobile
HbVar.384 ethnic Black
HbVar.384 phenoCommon Hemoglobin variant
HbVar.385 protEffect HBB 74(E17) Asp>Gly
HbVar.385 commonName Hb Tilburg
HbVar.385 ethnic Dutch
HbVar.385 phenoCommon Hemoglobin variant
HbVar.386 protEffect HBB 75(E18) Gly>Val
HbVar.386 commonName Hb Bushwick
HbVar.386 ethnic Italian
HbVar.386 ethnic American
HbVar.386 ethnic Japanese
HbVar.386 ethnic Yugoslavian
HbVar.386 ethnic Pakistani
HbVar.386 phenoCommon Hemoglobin variant
HbVar.386 phenoCommon severe Anemia
HbVar.386 phenoCommon chronic Anemia
HbVar.386 phenoCommon hemolytic Anemia
HbVar.387 protEffect HBB 75(E18) Gly>Asp
HbVar.387 commonName Hb Shepherds Bush
HbVar.387 ethnic English
HbVar.387 ethnic Sicilian
HbVar.387 phenoCommon Hemoglobin variant
HbVar.388 protEffect HBB 75(E18) Gly>Arg
HbVar.388 commonName Hb Aalborg
HbVar.388 phenoCommon Hemoglobin variant
HbVar.389 protEffect HBB 76(E19) Leu>Pro
HbVar.389 commonName Hb Atlanta
HbVar.389 ethnic Caucasian
HbVar.389 ethnic New Zealand
HbVar.389 ethnic Dutch
HbVar.389 phenoCommon Hemoglobin variant
HbVar.390 protEffect HBB 76(E19) Leu>Arg
HbVar.390 commonName Hb Pasadena
HbVar.390 ethnic French
HbVar.390 phenoCommon Hemoglobin variant
HbVar.391 protEffect HBB 77(E20) Ala>Asp
HbVar.391 commonName Hb J-Chicago
HbVar.391 ethnic Black
HbVar.391 ethnic Spanish
HbVar.391 phenoCommon Hemoglobin variant
HbVar.392 protEffect HBB 77(E20) Ala>Pro
HbVar.392 commonName Hb Calais
HbVar.392 ethnic French
HbVar.392 phenoCommon Hemoglobin variant
HbVar.393 protEffect HBB 78(EF1) His>Asp
HbVar.393 commonName Hb J-Iran
HbVar.393 ethnic Iranian
HbVar.393 ethnic Turkish
HbVar.393 phenoCommon Hemoglobin variant
HbVar.394 protEffect HBB 78(EF1) His>Tyr
HbVar.394 commonName Hb Fukuyama
HbVar.394 ethnic Japanese
HbVar.394 ethnic Caucasian
HbVar.394 ethnic Indonesian
HbVar.394 ethnic Swedish
HbVar.394 phenoCommon Hemoglobin variant
HbVar.395 protEffect HBB 78(EF1) His>Arg
HbVar.395 commonName Hb Costa Rica
HbVar.395 ethnic Costa Rican
HbVar.395 phenoCommon Hemoglobin variant
HbVar.396 protEffect HBB 78(EF1) His>Gln
HbVar.396 commonName Hb Vienna
HbVar.396 ethnic Austrian
HbVar.396 phenoCommon Hemoglobin variant
HbVar.397 protEffect HBB 79(EF2) Leu>Arg
HbVar.397 commonName Hb Quin-Hai
HbVar.397 ethnic Chinese
HbVar.397 phenoCommon Hemoglobin variant
HbVar.398 protEffect HBB 80(EF3) Asp>Gly
HbVar.398 commonName Hb G-Hsi-Tsou
HbVar.398 ethnic Chinese
HbVar.398 ethnic Greek
HbVar.398 phenoCommon Hemoglobin variant
HbVar.399 protEffect HBB 80(EF3) Asp>Tyr
HbVar.399 commonName Hb Tampa
HbVar.399 ethnic Caucasian
HbVar.399 phenoCommon Hemoglobin variant
HbVar.399 phenoCommon Normal
HbVar.400 protEffect HBB 80(EF3) Asp>His
HbVar.400 commonName Hb Tigraye
HbVar.400 ethnic Sardinian
HbVar.400 ethnic Ethiopian
HbVar.400 phenoCommon Hemoglobin variant
HbVar.401 protEffect HBB 80(EF3) Asp>Asn
HbVar.401 commonName Hb Yaizu
HbVar.401 ethnic Japanese
HbVar.401 phenoCommon Hemoglobin variant
HbVar.402 protEffect HBB 81(EF4) Asn>Lys
HbVar.402 commonName Hb G-Szuhu
HbVar.402 alias Hb Gifu
HbVar.402 ethnic Chinese
HbVar.402 ethnic Japanese
HbVar.402 ethnic Jewish
HbVar.402 ethnic English
HbVar.402 ethnic Spanish
HbVar.402 ethnic Sicilian
HbVar.402 phenoCommon Hemoglobin variant
HbVar.403 protEffect HBB 82(EF5) Leu>Arg
HbVar.403 commonName Hb Baylor
HbVar.403 ethnic Italian
HbVar.403 ethnic Irish
HbVar.403 phenoCommon Hemoglobin variant
HbVar.404 protEffect HBB 82(EF5) Leu>His
HbVar.404 commonName Hb La Roche-sur-Yon
HbVar.404 ethnic Portuguese
HbVar.404 phenoCommon Hemoglobin variant
HbVar.405 protEffect HBB 83(EF6) Lys>Asn
HbVar.405 commonName Hb Providence
HbVar.405 ethnic Black
HbVar.405 ethnic Japanese
HbVar.405 phenoCommon Hemoglobin variant
HbVar.406 protEffect HBB 83(EF6) Lys>Thr
HbVar.406 commonName Hb Rahere
HbVar.406 ethnic English
HbVar.406 ethnic Japanese
HbVar.406 phenoCommon Hemoglobin variant
HbVar.407 protEffect HBB 83(EF6) Lys>Met
HbVar.407 commonName Hb Helsinki
HbVar.407 ethnic Finnish
HbVar.407 phenoCommon Hemoglobin variant
HbVar.408 protEffect HBB 83(EF6) Lys>Gln
HbVar.408 commonName Hb Tsurumai
HbVar.408 ethnic Japanese
HbVar.408 phenoCommon Hemoglobin variant
HbVar.409 protEffect HBB 83(EF6) Lys>Glu
HbVar.409 commonName Hb Gambara
HbVar.409 ethnic Italian
HbVar.409 phenoCommon Hemoglobin variant
HbVar.410 protEffect HBB 84(EF7) Gly>Cys
HbVar.410 commonName Hb Ta-Li
HbVar.410 ethnic Chinese
HbVar.410 phenoCommon Hemoglobin variant
HbVar.411 protEffect HBB 84(EF7) Gly>Asp
HbVar.411 commonName Hb Pyrgos
HbVar.411 alias Hb Mizunami
HbVar.411 ethnic African
HbVar.411 ethnic Greek
HbVar.411 ethnic Italian
HbVar.411 ethnic Japanese
HbVar.411 ethnic Thai
HbVar.411 phenoCommon Hemoglobin variant
HbVar.412 protEffect HBB 84(EF7) Gly>Arg
HbVar.412 commonName Hb Muskegon
HbVar.412 ethnic American
HbVar.412 phenoCommon Hemoglobin variant
HbVar.413 protEffect HBB 85(EF8) Thr>Ile
HbVar.413 commonName Hb Kofu
HbVar.413 ethnic Japanese
HbVar.413 phenoCommon Hemoglobin variant
HbVar.414 protEffect HBB 86(F1) Phe>Ser
HbVar.414 commonName Hb Buenos Aires
HbVar.414 alias Hb Bryn Mawr
HbVar.414 ethnic Argentine
HbVar.414 ethnic Japanese
HbVar.414 ethnic Caucasian
HbVar.414 phenoCommon Hemoglobin variant
HbVar.415 protEffect HBB 87(F2) Ala>Asp
HbVar.415 commonName Hb Olomouc
HbVar.415 ethnic Czech
HbVar.415 ethnic Japanese
HbVar.415 ethnic American
HbVar.415 phenoCommon Hemoglobin variant
HbVar.416 protEffect HBB 88(F3) Thr>Lys
HbVar.416 commonName Hb D-Ibadan
HbVar.416 ethnic Nigerian
HbVar.416 ethnic Black
HbVar.416 phenoCommon Hemoglobin variant
HbVar.417 protEffect HBB 88(F3) Thr>Pro
HbVar.417 commonName Hb Valletta
HbVar.417 ethnic Italian
HbVar.417 ethnic Maltese
HbVar.417 phenoCommon Hemoglobin variant
HbVar.418 protEffect HBB 88(F3) Thr>Ile
HbVar.418 commonName Hb Quebec-Chori
HbVar.418 ethnic English
HbVar.418 ethnic French
HbVar.418 ethnic Canadian
HbVar.418 ethnic Irish
HbVar.418 ethnic Ghanaian
HbVar.418 phenoCommon Hemoglobin variant
HbVar.419 protEffect HBB 89(F4) Leu>Arg
HbVar.419 commonName Hb Boras
HbVar.419 ethnic Swedish
HbVar.419 ethnic South African
HbVar.419 phenoCommon Hemoglobin variant
HbVar.420 protEffect HBB 89(F4) Leu>Pro
HbVar.420 commonName Hb Santa Ana
HbVar.420 ethnic Caucasian
HbVar.420 ethnic Hungarian
HbVar.420 ethnic French
HbVar.420 ethnic Japanese
HbVar.420 ethnic American
HbVar.420 phenoCommon Hemoglobin variant
HbVar.421 protEffect HBB 90(F5) Ser>Asn
HbVar.421 commonName Hb Creteil
HbVar.421 ethnic French
HbVar.421 phenoCommon Hemoglobin variant
HbVar.422 protEffect HBB 90(F5) Ser>Arg
HbVar.422 commonName Hb Vanderbilt
HbVar.422 ethnic Caucasian
HbVar.422 phenoCommon Hemoglobin variant
HbVar.423 protEffect HBB 90(F5) Ser>Thr
HbVar.423 commonName Hb Villaverde
HbVar.423 ethnic Spanish
HbVar.423 phenoCommon Hemoglobin variant
HbVar.424 protEffect HBB 91(F6) Glu>Lys
HbVar.424 commonName Hb Agenogi
HbVar.424 ethnic African-American
HbVar.424 ethnic Hungarian
HbVar.424 ethnic Italian
HbVar.424 ethnic Japanese
HbVar.424 phenoCommon Hemoglobin variant
HbVar.425 protEffect HBB 91(F6) Glu>Gly
HbVar.425 commonName Hb Roseau-Pointe a Pitre
HbVar.425 ethnic Dominican
HbVar.425 phenoCommon Hemoglobin variant
HbVar.426 protEffect HBB 91(F6) Glu>Asp
HbVar.426 commonName Hb Pierre-Benite
HbVar.426 ethnic Caucasian
HbVar.426 phenoCommon Hemoglobin variant
HbVar.427 protEffect HBB 92(F7) Leu>Pro
HbVar.427 commonName Hb Sabine
HbVar.427 ethnic Scottish
HbVar.427 ethnic English
HbVar.427 ethnic German
HbVar.427 ethnic Yugoslavian
HbVar.427 phenoCommon Hemoglobin variant
HbVar.428 protEffect HBB 92(F7) Leu>Arg
HbVar.428 commonName Hb Caribbean
HbVar.428 ethnic Jamaican
HbVar.428 ethnic Canadian
HbVar.428 phenoCommon Hemoglobin variant
HbVar.429 protEffect HBB 93(F8) His>Arg
HbVar.429 commonName Hb Mozhaisk
HbVar.429 ethnic Russian
HbVar.429 phenoCommon Hemoglobin variant
HbVar.430 protEffect HBB 93(F8) His>Tyr
HbVar.430 commonName Hb M-Milwaukee-2
HbVar.430 alias Hb M-Hyde Park
HbVar.430 alias Hb M-Akita
HbVar.430 ethnic Swiss
HbVar.430 ethnic Black
HbVar.430 ethnic Japanese
HbVar.430 ethnic Yugoslavian
HbVar.430 ethnic Norwegian
HbVar.430 ethnic German
HbVar.430 phenoCommon Hemoglobin variant
HbVar.431 protEffect HBB 93(F8) His>Pro
HbVar.431 commonName Hb Newcastle
HbVar.431 ethnic English
HbVar.431 ethnic Russian
HbVar.431 phenoCommon Hemoglobin variant
HbVar.432 protEffect HBB 93(F8) His>Gln
HbVar.432 commonName Hb Saint Etienne
HbVar.432 alias Hb Istanbul
HbVar.432 ethnic Argentine
HbVar.432 ethnic French
HbVar.432 ethnic Turkish
HbVar.432 phenoCommon Hemoglobin variant
HbVar.433 protEffect HBB 93(F8) His>Asp
HbVar.433 commonName Hb J-Altgeld Gardens
HbVar.433 ethnic Black
HbVar.433 phenoCommon Hemoglobin variant
HbVar.434 protEffect HBB 93(F8) His>Asn
HbVar.434 commonName Hb Redondo
HbVar.434 alias Hb Isehara
HbVar.434 ethnic Japanese
HbVar.434 ethnic Portuguese
HbVar.434 phenoCommon Hemoglobin variant
HbVar.435 protEffect HBB 94(F9) Cys>Arg
HbVar.435 commonName Hb Okazaki
HbVar.435 ethnic Japanese
HbVar.435 phenoCommon Hemoglobin variant
HbVar.436 protEffect HBB 95(FG1) Asp>His
HbVar.436 commonName Hb Barcelona
HbVar.436 ethnic Spanish
HbVar.436 phenoCommon Hemoglobin variant
HbVar.437 protEffect HBB 95(FG1) Asp>Asn
HbVar.437 commonName Hb Bunbury
HbVar.437 ethnic Italian
HbVar.437 ethnic Caucasian
HbVar.437 ethnic Mexican
HbVar.437 ethnic American
HbVar.437 phenoCommon Hemoglobin variant
HbVar.438 protEffect HBB 95(FG1) Asp>Gly
HbVar.438 commonName Hb Chandigarh
HbVar.438 ethnic Indian
HbVar.438 phenoCommon Hemoglobin variant
HbVar.439 protEffect HBB 96(FG2) Lys>Glu
HbVar.439 commonName Hb N-Baltimore
HbVar.439 alias Hb Hopkins-I
HbVar.439 alias Hb Jenkins
HbVar.439 alias Hb N-Memphis
HbVar.439 alias Hb Kenwood
HbVar.439 ethnic Black
HbVar.439 phenoCommon Hemoglobin variant
HbVar.440 protEffect HBB 96(FG2) Lys>Met
HbVar.440 commonName Hb J-Cordoba
HbVar.440 ethnic Argentine
HbVar.440 phenoCommon Hemoglobin variant
HbVar.441 protEffect HBB 96(FG2) Lys>Asn
HbVar.441 commonName Hb Detroit
HbVar.441 ethnic Indian
HbVar.441 phenoCommon Hemoglobin variant
HbVar.442 protEffect HBB 97(FG3) Leu>Val
HbVar.442 commonName Hb Regina
HbVar.442 ethnic Scandinavian
HbVar.442 phenoCommon Hemoglobin variant
HbVar.443 protEffect HBB 97(FG3) Leu>Pro
HbVar.443 commonName Hb Debrousse
HbVar.443 ethnic Italian
HbVar.443 ethnic French
HbVar.443 phenoCommon Hemoglobin variant
HbVar.444 protEffect HBB 98(FG4) His>Gln
HbVar.444 commonName Hb Malmo
HbVar.444 ethnic Swedish
HbVar.444 ethnic Dutch
HbVar.444 ethnic German
HbVar.444 ethnic English
HbVar.444 ethnic American
HbVar.444 phenoCommon Hemoglobin variant
HbVar.445 protEffect HBB 98(FG4) His>Leu
HbVar.445 commonName Hb Wood
HbVar.445 ethnic Swedish
HbVar.445 ethnic Norwegian
HbVar.445 phenoCommon Hemoglobin variant
HbVar.446 protEffect HBB 98(FG4) His>Pro
HbVar.446 commonName Hb Nagoya
HbVar.446 ethnic Japanese
HbVar.446 phenoCommon Hemoglobin variant
HbVar.447 protEffect HBB 98(FG4) His>Tyr
HbVar.447 commonName Hb Moriguchi
HbVar.447 ethnic Japanese
HbVar.447 phenoCommon Hemoglobin variant
HbVar.448 protEffect HBB 99(FG5) Val>Met
HbVar.448 commonName Hb Koln
HbVar.448 alias Hb San Francisco (Pacific)
HbVar.448 alias Hb Ube-1
HbVar.448 phenoCommon Hemoglobin variant
HbVar.449 protEffect HBB 99(FG5) Val>Gly
HbVar.449 commonName Hb Nottingham
HbVar.449 ethnic English
HbVar.449 ethnic Caucasian
HbVar.449 ethnic Canadian
HbVar.449 ethnic Japanese
HbVar.449 phenoCommon Hemoglobin variant
HbVar.450 protEffect HBB 99(FG5) Val>Ala
HbVar.450 commonName Hb Djelfa
HbVar.450 ethnic Caucasian
HbVar.450 phenoCommon Hemoglobin variant
HbVar.451 protEffect HBB 99(FG5) Val>Glu
HbVar.451 commonName Hb Mainz
HbVar.451 ethnic German
HbVar.451 phenoCommon Hemoglobin variant
HbVar.452 protEffect HBB 100(G1) Asp>Asn
HbVar.452 commonName Hb Kempsey
HbVar.452 ethnic Irish
HbVar.452 ethnic French
HbVar.452 ethnic Black
HbVar.452 phenoCommon Hemoglobin variant
HbVar.453 protEffect HBB 100(G1) Asp>His
HbVar.453 commonName Hb Yakima
HbVar.453 ethnic Caucasian
HbVar.453 phenoCommon Hemoglobin variant
HbVar.454 protEffect HBB 100(G1) Asp>Ala
HbVar.454 commonName Hb Radcliffe
HbVar.454 ethnic English
HbVar.454 phenoCommon Hemoglobin variant
HbVar.455 protEffect HBB 100(G1) Asp>Tyr
HbVar.455 commonName Hb Ypsilanti (or Hb Ypsi)
HbVar.455 ethnic Black
HbVar.455 phenoCommon Hemoglobin variant
HbVar.456 protEffect HBB 100(G1) Asp>Gly
HbVar.456 commonName Hb Hotel-Dieu
HbVar.456 ethnic Puerto Rican
HbVar.456 ethnic French Caucasian
HbVar.456 phenoCommon Hemoglobin variant
HbVar.457 protEffect HBB 100(G1) Asp>Val
HbVar.457 commonName Hb Chemilly
HbVar.457 ethnic French Caucasian
HbVar.457 phenoCommon Hemoglobin variant
HbVar.458 protEffect HBB 100(G1) Asp>Glu
HbVar.458 commonName Hb Coimbra
HbVar.458 alias Hb Ingelheim
HbVar.458 ethnic German
HbVar.458 ethnic American
HbVar.458 ethnic Portuguese
HbVar.458 phenoCommon Hemoglobin variant
HbVar.459 protEffect HBB 101(G2) Pro>Leu
HbVar.459 commonName Hb Brigham
HbVar.459 phenoCommon Hemoglobin variant
HbVar.460 protEffect HBB 101(G2) Pro>Arg
HbVar.460 commonName Hb New Mexico
HbVar.460 ethnic Black
HbVar.460 phenoCommon Hemoglobin variant
HbVar.461 protEffect HBB 102(G3) Glu>Lys
HbVar.461 commonName Hb British Columbia
HbVar.461 ethnic East Indian
HbVar.461 ethnic Caucasian
HbVar.461 phenoCommon Hemoglobin variant
HbVar.462 protEffect HBB 102(G3) Glu>Gln
HbVar.462 commonName Hb Rush
HbVar.462 ethnic Black
HbVar.462 phenoCommon Hemoglobin variant
HbVar.463 protEffect HBB 102(G3) Glu>Gly
HbVar.463 commonName Hb Alberta
HbVar.463 ethnic Caucasian
HbVar.463 phenoCommon Hemoglobin variant
HbVar.464 protEffect HBB 102(G3) Glu>Asp
HbVar.464 commonName Hb Potomac
HbVar.464 ethnic Caucasian
HbVar.464 phenoCommon Hemoglobin variant
HbVar.465 protEffect HBB 103(G4) Asn>Lys
HbVar.465 commonName Hb Richmond
HbVar.465 ethnic Black
HbVar.465 phenoCommon Hemoglobin variant
HbVar.466 protEffect HBB 103(G4) Asn>Thr
HbVar.466 commonName Hb Kansas
HbVar.466 ethnic Caucasian
HbVar.466 ethnic Japanese
HbVar.466 phenoCommon Hemoglobin variant
HbVar.467 protEffect HBB 103(G4) Asn>Ser
HbVar.467 commonName Hb Beth Israel
HbVar.467 ethnic Italian
HbVar.467 ethnic Yugoslavian
HbVar.467 phenoCommon Hemoglobin variant
HbVar.468 protEffect HBB 103(G4) Asn>Tyr
HbVar.468 commonName Hb Saint Mande
HbVar.468 ethnic French
HbVar.468 phenoCommon Hemoglobin variant
HbVar.469 protEffect HBB 104(G5) Phe>Leu
HbVar.469 commonName Hb Heathrow
HbVar.469 ethnic English
HbVar.469 ethnic Australian
HbVar.469 phenoCommon Hemoglobin variant
HbVar.470 protEffect HBB 104(G5) Phe>Ile
HbVar.470 commonName Hb Saint Nazaire
HbVar.470 ethnic French
HbVar.470 phenoCommon Hemoglobin variant
HbVar.471 protEffect HBB 105(G6) Arg>Ser
HbVar.471 commonName Hb Camperdown
HbVar.471 ethnic Maltese
HbVar.471 phenoCommon Hemoglobin variant
HbVar.472 protEffect HBB 105(G6) Arg>Thr
HbVar.472 commonName Hb Sherwood Forest
HbVar.472 ethnic Kashmiri Muslim
HbVar.472 phenoCommon Hemoglobin variant
HbVar.473 protEffect HBB 105(G6) Arg>Lys
HbVar.473 commonName Hb Alzette
HbVar.473 ethnic Luxembourg
HbVar.473 phenoCommon Hemoglobin variant
HbVar.474 protEffect HBB 106(G7) Leu>Phe
HbVar.474 commonName Hb South Milwaukee
HbVar.474 ethnic English
HbVar.474 phenoCommon Hemoglobin variant
HbVar.475 protEffect HBB 107(G8) Leu>Pro
HbVar.475 commonName Hb Southampton
HbVar.475 alias Hb Casper
HbVar.475 ethnic Argentine
HbVar.475 ethnic Caucasian
HbVar.475 ethnic English
HbVar.475 phenoCommon Hemoglobin variant
HbVar.476 protEffect HBB 107(G8) Leu>Gln
HbVar.476 commonName Hb Tubingen
HbVar.476 ethnic German
HbVar.476 ethnic Belgian
HbVar.476 phenoCommon Hemoglobin variant
HbVar.477 protEffect HBB 107(G8) Leu>Arg
HbVar.477 commonName Hb Terre Haute
HbVar.477 phenoCommon Hemoglobin variant
HbVar.478 protEffect HBB 108(G9) Gly>Arg
HbVar.478 commonName Hb Burke
HbVar.478 ethnic Caucasian
HbVar.478 ethnic Japanese
HbVar.478 phenoCommon Hemoglobin variant
HbVar.479 protEffect HBB 108(G9) Gly>Asp
HbVar.479 commonName Hb Lulu Island
HbVar.479 ethnic East Indian
HbVar.479 phenoCommon Hemoglobin variant
HbVar.480 protEffect HBB 109(G10) Asn>Asp
HbVar.480 commonName Hb Yoshizuka
HbVar.480 ethnic Japanese
HbVar.480 phenoCommon Hemoglobin variant
HbVar.481 protEffect HBB 109(G10) Asn>Lys
HbVar.481 commonName Hb Presbyterian
HbVar.481 ethnic American
HbVar.481 ethnic German
HbVar.481 ethnic Spanish
HbVar.481 phenoCommon Hemoglobin variant
HbVar.482 protEffect HBB 109(G10) Asn>His
HbVar.482 commonName Hb Shizuoka
HbVar.482 ethnic Japanese
HbVar.482 phenoCommon Hemoglobin variant
HbVar.483 protEffect HBB 110(G11) Val>Met
HbVar.483 commonName Hb San Diego
HbVar.483 ethnic Philippine
HbVar.483 ethnic Anglo-Saxon
HbVar.483 ethnic Japanese
HbVar.483 ethnic West Indian
HbVar.483 ethnic Caucasian
HbVar.483 phenoCommon Hemoglobin variant
HbVar.484 protEffect HBB 110(G11) Val>Leu
HbVar.484 commonName Hb Johnstown
HbVar.484 ethnic Caucasian
HbVar.484 ethnic Spanish
HbVar.484 phenoCommon Hemoglobin variant
HbVar.485 protEffect HBB 111(G12) Leu>Pro
HbVar.485 commonName Hb Showa-Yakushiji
HbVar.485 alias Codon 110 (T->C); CTG(Leu)->CCG(Pro) beta+
HbVar.485 ethnic United Arab Emirates
HbVar.485 ethnic Japanese
HbVar.485 phenoCommon beta+ thalassemia
HbVar.486 protEffect HBB 112(G13) Val>Phe
HbVar.486 commonName Hb Peterborough
HbVar.486 ethnic Italian
HbVar.486 phenoCommon Hemoglobin variant
HbVar.487 protEffect HBB 112(G13) Val>Ala
HbVar.487 commonName Hb Stanmore
HbVar.487 ethnic Japanese
HbVar.487 ethnic Italian
HbVar.487 phenoCommon Hemoglobin variant
HbVar.488 protEffect HBB 113(G14) Cys>Arg
HbVar.488 commonName Hb Indianapolis
HbVar.488 ethnic Spanish
HbVar.488 phenoCommon Hemoglobin variant
HbVar.489 protEffect HBB 113(G14) Cys>Tyr
HbVar.489 commonName Hb Yahata
HbVar.489 ethnic Japanese
HbVar.489 phenoCommon Hemoglobin variant
HbVar.490 protEffect HBB 113(G14) Cys>Trp
HbVar.490 commonName Hb Toranomon
HbVar.490 ethnic Japanese
HbVar.490 phenoCommon Hemoglobin variant
HbVar.491 protEffect HBB 114(G15) Val>Glu
HbVar.491 commonName Hb New York
HbVar.491 alias Hb Kaohsiung
HbVar.491 ethnic American
HbVar.491 ethnic Chinese
HbVar.491 phenoCommon Hemoglobin variant
HbVar.492 protEffect HBB 115(G16) Leu>Met
HbVar.492 commonName Hb Zengcheng
HbVar.492 ethnic Chinese
HbVar.492 phenoCommon Hemoglobin variant
HbVar.493 protEffect HBB 115(G16) Leu>Pro
HbVar.493 commonName Hb Durham-N.C.
HbVar.493 alias Codon 114 (T->C); CTG(Leu)->CCG(Pro) beta0
HbVar.493 alias Hb Brescia
HbVar.493 ethnic Russian
HbVar.493 ethnic Irish
HbVar.493 ethnic Italian
HbVar.493 phenoCommon Thalassemia
HbVar.494 protEffect HBB 116(G17) Ala>Pro
HbVar.494 commonName Hb Madrid
HbVar.494 ethnic Black
HbVar.494 ethnic Korean
HbVar.494 ethnic Spanish
HbVar.494 phenoCommon Hemoglobin variant
HbVar.495 protEffect HBB 116(G17) Ala>Asp
HbVar.495 commonName Hb Hradec Kralove (or Hb HK)
HbVar.495 alias Codon 115 (C->A); GCC(Ala)->GAC(Asp) beta+ (dominant beta-thal trait)
HbVar.495 ethnic Czech
HbVar.495 phenoCommon beta+ thalassemia
HbVar.496 protEffect HBB 117(G18) His>Gln
HbVar.496 commonName Hb Hafnia
HbVar.496 ethnic Danish
HbVar.496 phenoCommon Hemoglobin variant
HbVar.497 protEffect HBB 118(G19) His>Arg
HbVar.497 commonName Hb P-Galveston
HbVar.497 ethnic Black
HbVar.497 phenoCommon Hemoglobin variant
HbVar.498 protEffect HBB 118(G19) His>Pro
HbVar.498 commonName Hb Saitama
HbVar.498 ethnic Japanese
HbVar.498 phenoCommon Hemoglobin variant
HbVar.499 protEffect HBB 118(G19) His>Tyr
HbVar.499 commonName Hb Tsukumi
HbVar.499 ethnic Japanese
HbVar.499 ethnic Moroccan
HbVar.499 phenoCommon Hemoglobin variant
HbVar.500 protEffect HBB 118(G19) His>Asn
HbVar.500 commonName Hb Brent
HbVar.500 ethnic Bosnian
HbVar.500 phenoCommon Hemoglobin variant
HbVar.501 protEffect HBB 119(GH1) Phe>Tyr
HbVar.501 commonName Hb Minneapolis-Laos
HbVar.501 ethnic Laotian
HbVar.501 ethnic Cambodian
HbVar.501 phenoCommon Hemoglobin variant
HbVar.502 protEffect HBB 112(G13) Val>Leu AND HBB 120(GH2) Gly>Asp
HbVar.502 commonName Hb Fannin-Lubbock II
HbVar.502 ethnic Mexican
HbVar.502 ethnic American
HbVar.502 ethnic Spanish
HbVar.502 phenoCommon Hemoglobin variant
HbVar.503 protEffect HBB 120(GH2) Gly>Val
HbVar.503 commonName Hb Bougardirey-Mali
HbVar.503 ethnic African
HbVar.503 phenoCommon Hemoglobin variant
HbVar.504 protEffect HBB 120(GH2) Gly>Ala
HbVar.504 commonName Hb Iowa
HbVar.504 phenoCommon Hemoglobin variant
HbVar.505 protEffect HBB 121(GH3) Lys>Glu
HbVar.505 commonName Hb Hijiyama
HbVar.505 ethnic Japanese
HbVar.505 ethnic Finnish
HbVar.505 phenoCommon Hemoglobin variant
HbVar.506 protEffect HBB 121(GH3) Lys>Asn
HbVar.506 commonName Hb Riyadh
HbVar.506 alias Hb Karatsu
HbVar.506 ethnic Saudi Arabian
HbVar.506 ethnic Mexican
HbVar.506 ethnic Spanish
HbVar.506 ethnic Asian Indian
HbVar.506 ethnic Japanese
HbVar.506 phenoCommon Hemoglobin variant
HbVar.507 protEffect HBB 121(GH3) Lys>Gln
HbVar.507 commonName Hb Takamatsu
HbVar.507 ethnic Japanese
HbVar.507 phenoCommon Hemoglobin variant
HbVar.508 protEffect HBB 121(GH3) Lys>Ile
HbVar.508 commonName Hb Jianghua
HbVar.508 ethnic Chinese
HbVar.508 phenoCommon Hemoglobin variant
HbVar.509 protEffect HBB 122(GH4) Glu>Gln
HbVar.509 commonName Hb D-Los Angeles
HbVar.509 alias Hb D-Punjab
HbVar.509 alias Hb D-North Carolina
HbVar.509 alias Hb D-Portugal
HbVar.509 alias Hb Oak Ridge
HbVar.509 alias Hb D-Chicago
HbVar.509 ethnic Chinese
HbVar.509 ethnic Australian
HbVar.509 ethnic Dutch
HbVar.509 ethnic English
HbVar.509 ethnic Greek
HbVar.509 ethnic Northwestern Indian
HbVar.509 ethnic Pakistani
HbVar.509 ethnic Turkish
HbVar.509 ethnic Yugoslavian
HbVar.509 phenoCommon Hemoglobin variant
HbVar.509 phenoCommon Normal
HbVar.510 protEffect HBB 122(GH4) Glu>Lys
HbVar.510 commonName Hb O-Arab
HbVar.510 alias Hb Egypt
HbVar.510 alias Hb O-Thrace
HbVar.510 ethnic Arabian
HbVar.510 ethnic Egyptian
HbVar.510 ethnic African-American
HbVar.510 ethnic Gypsy
HbVar.510 ethnic Pomak
HbVar.510 phenoCommon Hemoglobin variant
HbVar.510 phenoCommon Microcytosis
HbVar.510 phenoCommon mild Anemia
HbVar.511 protEffect HBB 122(GH4) Glu>Gly
HbVar.511 commonName Hb St. Francis
HbVar.511 ethnic Caucasian
HbVar.511 phenoCommon Hemoglobin variant
HbVar.512 protEffect HBB 122(GH4) Glu>Val
HbVar.512 commonName Hb Beograd
HbVar.512 alias Hb D-Camperdown
HbVar.512 ethnic Yugoslavian
HbVar.512 ethnic Turkish
HbVar.512 phenoCommon Hemoglobin variant
HbVar.513 protEffect HBB 122(GH4) Glu>Ala
HbVar.513 commonName Hb D-Neath
HbVar.513 ethnic Caucasian
HbVar.513 phenoCommon Hemoglobin variant
HbVar.514 protEffect HBB 124(H1) Thr>Ile
HbVar.514 commonName Hb Villejuif
HbVar.514 ethnic French
HbVar.514 phenoCommon Hemoglobin variant
HbVar.515 protEffect HBB 125(H2) Pro>Arg
HbVar.515 commonName Hb Khartoum
HbVar.515 ethnic Khartoum
HbVar.515 phenoCommon Hemoglobin variant
HbVar.516 protEffect HBB 125(H2) Pro>Gln
HbVar.516 commonName Hb Ty Gard
HbVar.516 ethnic French
HbVar.516 phenoCommon Hemoglobin variant
HbVar.517 protEffect HBB 125(H2) Pro>Ser
HbVar.517 commonName Hb Tunis
HbVar.517 ethnic Tunisian
HbVar.517 phenoCommon Hemoglobin variant
HbVar.518 protEffect HBB 125(H2) Pro>Leu
HbVar.518 commonName Hb Tende
HbVar.518 ethnic French
HbVar.518 phenoCommon Hemoglobin variant
HbVar.519 protEffect HBB 127(H4) Val>Glu
HbVar.519 commonName Hb Hofu
HbVar.519 ethnic Japanese
HbVar.519 ethnic Indian
HbVar.519 ethnic Black
HbVar.519 ethnic Spanish
HbVar.519 phenoCommon Hemoglobin variant
HbVar.520 protEffect HBB 127(H4) Val>Ala
HbVar.520 commonName Hb Beirut
HbVar.520 ethnic Lebanese
HbVar.520 phenoCommon Hemoglobin variant
HbVar.521 protEffect HBB 127(H4) Val>Gly
HbVar.521 commonName Hb Dhonburi
HbVar.521 alias Hb Neapolis
HbVar.521 alias Codon 126 (T->G); GTG(Val)->GGG(Gly) Mild beta-thal trait
HbVar.521 ethnic Thai
HbVar.521 ethnic Italian
HbVar.521 ethnic German
HbVar.521 phenoCommon beta0 thalassemia
HbVar.522 protEffect HBB 128(H5) Gln>Glu
HbVar.522 commonName Hb Complutense
HbVar.522 ethnic Spanish
HbVar.522 phenoCommon Hemoglobin variant
HbVar.523 protEffect HBB 128(H5) Gln>Lys
HbVar.523 commonName Hb Brest
HbVar.523 ethnic French
HbVar.523 phenoCommon Hemoglobin variant
HbVar.524 protEffect HBB 128(H5) Gln>Arg
HbVar.524 commonName Hb Dieppe
HbVar.524 ethnic French
HbVar.524 phenoCommon Hemoglobin variant
HbVar.525 protEffect HBB 129(H6) Ala>Asp
HbVar.525 commonName Hb J-Guantanamo
HbVar.525 ethnic Cuban
HbVar.525 ethnic Chinese
HbVar.525 ethnic Japanese
HbVar.525 ethnic Chilean
HbVar.525 ethnic Benin
HbVar.525 phenoCommon Hemoglobin variant
HbVar.526 protEffect HBB 129(H6) Ala>Pro
HbVar.526 commonName Hb Mont Saint Aignan
HbVar.526 ethnic French Caucasian
HbVar.526 phenoCommon Hemoglobin variant
HbVar.527 protEffect HBB 129(H6) Ala>Val
HbVar.527 commonName Hb Sitia
HbVar.527 ethnic Greek
HbVar.527 phenoCommon Hemoglobin variant
HbVar.528 protEffect HBB 130(H7) Ala>Asp
HbVar.528 commonName Hb J-Taichung
HbVar.528 ethnic Chinese
HbVar.528 phenoCommon Hemoglobin variant
HbVar.529 protEffect HBB 130(H7) Ala>Asp OR HBB 130(H7) Ala>Glu
HbVar.529 commonName Hb K-Cameroon
HbVar.529 ethnic Cameroonian
HbVar.529 phenoCommon Hemoglobin variant
HbVar.530 protEffect HBB 130(H7) Ala>Pro
HbVar.530 commonName Hb Crete
HbVar.530 ethnic Greek
HbVar.530 phenoCommon Hemoglobin variant
HbVar.531 protEffect HBB 130(H7) Ala>Val
HbVar.531 commonName Hb La Desirade
HbVar.531 ethnic Black
HbVar.531 phenoCommon Hemoglobin variant
HbVar.532 protEffect HBB 131(H8) Tyr>Asp
HbVar.532 commonName Hb Wien
HbVar.532 ethnic Australian
HbVar.532 ethnic German
HbVar.532 phenoCommon Hemoglobin variant
HbVar.533 protEffect HBB 131(H8) Tyr>Ser
HbVar.533 commonName Hb Nevers
HbVar.533 ethnic French Caucasian
HbVar.533 phenoCommon Hemoglobin variant
HbVar.534 protEffect HBB 131(H8) Tyr>Cys
HbVar.534 commonName Hb Montfermeil
HbVar.534 ethnic Portuguese
HbVar.534 ethnic Hungarian
HbVar.534 ethnic Gypsy
HbVar.534 phenoCommon Hemoglobin variant
HbVar.535 protEffect HBB 132(H9) Gln>Glu
HbVar.535 commonName Hb Camden
HbVar.535 alias Hb Tokuchi
HbVar.535 alias Hb Motown
HbVar.535 ethnic Black
HbVar.535 ethnic Japanese
HbVar.535 phenoCommon Hemoglobin variant
HbVar.536 protEffect HBB 132(H9) Gln>Lys
HbVar.536 commonName Hb Shelby
HbVar.536 ethnic Black
HbVar.536 phenoCommon Hemoglobin variant
HbVar.537 protEffect HBB 132(H9) Gln>Pro
HbVar.537 commonName Hb Shanghai
HbVar.537 ethnic Chinese
HbVar.537 phenoCommon Hemoglobin variant
HbVar.538 protEffect HBB 132(H9) Gln>Arg
HbVar.538 commonName Hb Sarrebourg
HbVar.538 ethnic Turkish
HbVar.538 phenoCommon Hemoglobin variant
HbVar.539 protEffect HBB 132(H9) Gln>His
HbVar.539 commonName Hb Silver Springs
HbVar.539 ethnic African-American
HbVar.539 phenoCommon Hemoglobin variant
HbVar.540 protEffect HBB 133(H10) Lys>Gln
HbVar.540 commonName Hb K-Woolwich
HbVar.540 ethnic Black
HbVar.540 phenoCommon Hemoglobin variant
HbVar.540 phenoCommon Normal
HbVar.541 protEffect HBB 133(H10) Lys>Asn
HbVar.541 commonName Hb Yamagata
HbVar.541 ethnic Japanese
HbVar.541 phenoCommon Hemoglobin variant
HbVar.542 protEffect HBB 133(H10) Lys>Thr
HbVar.542 commonName Hb Cook
HbVar.542 ethnic Thai
HbVar.542 phenoCommon Hemoglobin variant
HbVar.543 protEffect HBB 133(H10) Lys>Glu
HbVar.543 commonName Hb Takasago
HbVar.543 ethnic Japanese
HbVar.543 phenoCommon Hemoglobin variant
HbVar.544 protEffect HBB 134(H11) Val>Leu AND HBB 65(E8) Gly>Ser
HbVar.544 commonName Hb Extremadura
HbVar.544 ethnic Spanish
HbVar.544 phenoCommon Hemoglobin variant
HbVar.545 protEffect HBB 135(H12) Val>Glu
HbVar.545 commonName Hb North Shore
HbVar.545 alias Hb North Shore-Caracas
HbVar.545 ethnic English
HbVar.545 ethnic Venezuelan
HbVar.545 ethnic Anglo-Celtic
HbVar.545 phenoCommon Hemoglobin variant
HbVar.546 protEffect HBB 136(H13) Ala>Pro
HbVar.546 commonName Hb Altdorf
HbVar.546 ethnic Italian
HbVar.546 phenoCommon Hemoglobin variant
HbVar.547 protEffect HBB 136(H13) Ala>Asp
HbVar.547 commonName Hb Beckman
HbVar.547 ethnic Black
HbVar.547 phenoCommon Hemoglobin variant
HbVar.548 protEffect HBB 137(H14) Gly>Asp
HbVar.548 commonName Hb Hope
HbVar.548 ethnic Black
HbVar.548 ethnic Cuban
HbVar.548 ethnic Japanese
HbVar.548 ethnic Laotian
HbVar.548 ethnic Thai
HbVar.548 phenoCommon Hemoglobin variant
HbVar.549 protEffect HBB 137(H14) Gly>Ala
HbVar.549 commonName Hb Petit Bourg
HbVar.549 ethnic English
HbVar.549 ethnic French West Indies
HbVar.549 phenoCommon Hemoglobin variant
HbVar.550 protEffect HBB 137(H14) Gly>Ser
HbVar.550 commonName Hb Perpignan
HbVar.550 ethnic French Caucasian
HbVar.550 phenoCommon Hemoglobin variant
HbVar.551 protEffect HBB 139(H16) Ala>Pro
HbVar.551 commonName Hb Brockton
HbVar.551 ethnic Caucasian
HbVar.551 ethnic Turkish
HbVar.551 ethnic Chinese
HbVar.551 phenoCommon Hemoglobin variant
HbVar.552 protEffect HBB 140(H17) Asn>Asp
HbVar.552 commonName Hb Geelong
HbVar.552 ethnic Polish
HbVar.552 ethnic Russian
HbVar.552 ethnic Thai
HbVar.552 ethnic Tatar
HbVar.552 phenoCommon Hemoglobin variant
HbVar.553 protEffect HBB 140(H17) Asn>Lys
HbVar.553 commonName Hb Hinsdale
HbVar.553 phenoCommon Hemoglobin variant
HbVar.554 protEffect HBB 140(H17) Asn>Tyr
HbVar.554 commonName Hb Aurora
HbVar.554 ethnic Dutch
HbVar.554 phenoCommon Hemoglobin variant
HbVar.555 protEffect HBB 141(H18) Ala>Thr
HbVar.555 commonName Hb Saint-Jacques
HbVar.555 ethnic Caucasian
HbVar.555 phenoCommon Hemoglobin variant
HbVar.556 protEffect HBB 141(H18) Ala>Asp
HbVar.556 commonName Hb Himeji
HbVar.556 ethnic Japanese
HbVar.556 ethnic Portuguese
HbVar.556 phenoCommon Hemoglobin variant
HbVar.557 protEffect HBB 141(H18) Ala>Val
HbVar.557 commonName Hb Puttelange
HbVar.557 ethnic French
HbVar.557 phenoCommon Hemoglobin variant
HbVar.558 protEffect HBB 142(H19) Leu>Arg
HbVar.558 commonName Hb Olmsted
HbVar.558 ethnic French
HbVar.558 ethnic Caucasian
HbVar.558 phenoCommon Hemoglobin variant
HbVar.559 protEffect HBB 143(H20) Ala>Asp
HbVar.559 commonName Hb Ohio
HbVar.559 ethnic Scottish
HbVar.559 ethnic English
HbVar.559 phenoCommon Hemoglobin variant
HbVar.560 protEffect HBB 143(H20) Ala>Pro
HbVar.560 commonName Hb Toyoake
HbVar.560 ethnic Japanese
HbVar.560 phenoCommon Hemoglobin variant
HbVar.561 protEffect HBB 144(H21) His>Asn
HbVar.561 commonName Hb Sapporo
HbVar.561 ethnic Japanese
HbVar.561 phenoCommon Hemoglobin variant
HbVar.562 protEffect HBB 144(H21) His>Arg
HbVar.562 commonName Hb Abruzzo
HbVar.562 ethnic Italian
HbVar.562 ethnic American
HbVar.562 phenoCommon Hemoglobin variant
HbVar.563 protEffect HBB 144(H21) His>Gln
HbVar.563 commonName Hb Little Rock
HbVar.563 ethnic American
HbVar.563 phenoCommon Hemoglobin variant
HbVar.564 protEffect HBB 144(H21) His>Pro
HbVar.564 commonName Hb Syracuse
HbVar.564 ethnic Caucasian
HbVar.564 ethnic Japanese
HbVar.564 phenoCommon Hemoglobin variant
HbVar.565 protEffect HBB 144(H21) His>Asp
HbVar.565 commonName Hb Rancho Mirage
HbVar.565 phenoCommon Hemoglobin variant
HbVar.566 protEffect HBB 144(H21) His>Tyr
HbVar.566 commonName Hb Old Dominion/Burton-upon-Trent (OD/BuT)
HbVar.566 ethnic Scottish
HbVar.566 ethnic Irish
HbVar.566 phenoCommon Hemoglobin variant
HbVar.567 protEffect HBB 145(HC1) Lys>Asn
HbVar.567 commonName Hb Andrew-Minneapolis
HbVar.567 ethnic Bulgarian
HbVar.567 ethnic German
HbVar.567 ethnic Spanish
HbVar.567 phenoCommon Hemoglobin variant
HbVar.568 protEffect HBB 145(HC1) Lys>Glu
HbVar.568 commonName Hb Mito
HbVar.568 ethnic Japanese
HbVar.568 phenoCommon Hemoglobin variant
HbVar.569 protEffect HBB 145(HC1) Lys>Met
HbVar.569 commonName Hb Barbizon
HbVar.569 ethnic French Caucasian
HbVar.569 phenoCommon Hemoglobin variant
HbVar.570 protEffect HBB 146(HC2) Tyr>His
HbVar.570 commonName Hb Bethesda
HbVar.570 ethnic Chinese
HbVar.570 ethnic Canadian
HbVar.570 ethnic Caucasian
HbVar.570 phenoCommon Hemoglobin variant
HbVar.571 protEffect HBB 146(HC2) Tyr>Cys
HbVar.571 commonName Hb Rainier
HbVar.571 ethnic Caucasian
HbVar.571 ethnic French
HbVar.571 ethnic Greek
HbVar.571 ethnic Italian
HbVar.571 phenoCommon Hemoglobin variant
HbVar.572 protEffect HBB 146(HC2) Tyr>Asn
HbVar.572 commonName Hb Osler
HbVar.572 alias Hb Fort Gordon
HbVar.572 ethnic Black
HbVar.572 phenoCommon Hemoglobin variant
HbVar.573 protEffect HBB 146(HC2) Tyr>Asp
HbVar.573 commonName Hb Nancy
HbVar.573 ethnic French
HbVar.573 phenoCommon Hemoglobin variant
HbVar.574 protEffect HBB 146(HC2) Tyr-His->0
HbVar.574 commonName Hb McKees Rocks
HbVar.574 ethnic Caucasian
HbVar.574 phenoCommon Hemoglobin variant
HbVar.575 protEffect HBB 147(HC3) His>Asp
HbVar.575 commonName Hb Hiroshima
HbVar.575 ethnic Japanese
HbVar.575 phenoCommon Hemoglobin variant
HbVar.576 protEffect HBB 147(HC3) His>Pro
HbVar.576 commonName Hb York
HbVar.576 ethnic Caucasian
HbVar.576 phenoCommon Hemoglobin variant
HbVar.577 protEffect HBB 147(HC3) His>Arg
HbVar.577 commonName Hb Cochin-Port Royal
HbVar.577 ethnic French
HbVar.577 phenoCommon Hemoglobin variant
HbVar.578 protEffect HBB 147(HC3) His>Leu
HbVar.578 commonName Hb Cowtown
HbVar.578 ethnic Caucasian
HbVar.578 phenoCommon Hemoglobin variant
HbVar.579 protEffect HBB 147(HC3) His>Gln
HbVar.579 commonName Hb Kodaira
HbVar.579 ethnic Japanese
HbVar.579 phenoCommon Hemoglobin variant
HbVar.580 protEffect HBG2 2(NA1) Gly>Cys
HbVar.580 commonName Hb F-Malaysia
HbVar.580 ethnic Chinese
HbVar.580 phenoCommon Hemoglobin variant
HbVar.581 protEffect HBG2 6(A2) Glu>Gly
HbVar.581 commonName Hb F-Meinohama
HbVar.581 ethnic Japanese
HbVar.581 phenoCommon Hemoglobin variant
HbVar.582 protEffect HBG2 8(A4) Asp>Asn
HbVar.582 commonName Hb F-Auckland
HbVar.582 ethnic American
HbVar.582 ethnic New Zealand
HbVar.582 phenoCommon Hemoglobin variant
HbVar.583 protEffect HBG2 9(A5) Lys>Gln OR HBG2 9(A5) Lys>Glu
HbVar.583 commonName Hb F-Albaicin
HbVar.583 ethnic Spanish
HbVar.583 phenoCommon Hemoglobin variant
HbVar.584 protEffect HBG2 13(A9) Thr>Arg
HbVar.584 commonName Hb F-Heather
HbVar.584 phenoCommon Hemoglobin variant
HbVar.585 protEffect HBG2 16(A12) Trp>Arg
HbVar.585 commonName Hb F-Catalonia
HbVar.585 ethnic Spanish
HbVar.585 phenoCommon Hemoglobin variant
HbVar.586 protEffect HBG2 17(A13) Gly>Arg
HbVar.586 commonName Hb F-Melbourne
HbVar.586 ethnic Spanish
HbVar.586 phenoCommon Hemoglobin variant
HbVar.587 protEffect HBG2 22(B3) Glu>Gln
HbVar.587 commonName Hb F-Fuchu
HbVar.587 ethnic Japanese
HbVar.587 phenoCommon Hemoglobin variant
HbVar.588 protEffect HBG2 22(B3) Glu>Lys
HbVar.588 commonName Hb F-Saskatoon
HbVar.588 ethnic American Indian
HbVar.588 phenoCommon Hemoglobin variant
HbVar.589 protEffect HBG2 23(B4) Asp>Gly
HbVar.589 commonName Hb F-Urumqi
HbVar.589 ethnic Chinese
HbVar.589 phenoCommon Hemoglobin variant
HbVar.590 protEffect HBG2 23(B4) Asp>Val
HbVar.590 commonName Hb F-Granada
HbVar.590 ethnic Spanish
HbVar.590 phenoCommon Hemoglobin variant
HbVar.591 protEffect HBG2 26(B7) Gly>Glu
HbVar.591 commonName Hb F-Cosenza
HbVar.591 ethnic Italian
HbVar.591 phenoCommon Hemoglobin variant
HbVar.592 protEffect HBG2 27(B8) Glu>Lys
HbVar.592 commonName Hb F-Oakland
HbVar.592 ethnic Chinese
HbVar.592 ethnic Black
HbVar.592 phenoCommon Hemoglobin variant
HbVar.593 protEffect HBG2 35(B16) Val>Ile
HbVar.593 commonName Hb F-Tokyo
HbVar.593 ethnic Japanese
HbVar.593 phenoCommon Hemoglobin variant
HbVar.594 protEffect HBG2 41(C6) Arg>Lys
HbVar.594 commonName Hb F-Austell
HbVar.594 ethnic Black
HbVar.594 phenoCommon Hemoglobin variant
HbVar.595 protEffect HBG2 41(C6) Arg>Gly
HbVar.595 commonName Hb F-Veleta
HbVar.595 ethnic Spanish
HbVar.595 phenoCommon Hemoglobin variant
HbVar.596 protEffect HBG2 42(C7) Phe>Ser
HbVar.596 commonName Hb F-Cincinnati
HbVar.596 ethnic Caucasian
HbVar.596 phenoCommon Hemoglobin variant
HbVar.597 protEffect HBG2 45(CD3) Ser>Arg
HbVar.597 commonName Hb F-Lodz
HbVar.597 ethnic Polish
HbVar.597 phenoCommon Hemoglobin variant
HbVar.598 protEffect HBG2 56(D6) Met>Arg
HbVar.598 commonName Hb F-Kingston
HbVar.598 ethnic Jamaican
HbVar.598 ethnic Spanish
HbVar.598 phenoCommon Hemoglobin variant
HbVar.599 protEffect HBG2 60(E3) Lys>Gln
HbVar.599 commonName Hb F-Sacromonte
HbVar.599 alias Hb F-Foch
HbVar.599 ethnic Spanish
HbVar.599 ethnic French
HbVar.599 phenoCommon Hemoglobin variant
HbVar.600 protEffect HBG2 60(E3) Lys>Glu
HbVar.600 commonName Hb F-Emirates
HbVar.600 ethnic Arabian
HbVar.600 phenoCommon Hemoglobin variant
HbVar.601 protEffect HBG2 64(E7) His>Tyr
HbVar.601 commonName Hb F-M-Osaka
HbVar.601 ethnic Caucasian
HbVar.601 ethnic Japanese
HbVar.601 phenoCommon Hemoglobin variant
HbVar.602 protEffect HBG2 66(E9) Lys>Asn
HbVar.602 commonName Hb F-Clarke
HbVar.602 ethnic Hispanic
HbVar.602 phenoCommon Hemoglobin variant
HbVar.603 protEffect HBG2 67(E10) Lys>Arg
HbVar.603 commonName Hb F-Shanghai
HbVar.603 ethnic Chinese
HbVar.603 phenoCommon Hemoglobin variant
HbVar.604 protEffect HBG2 67(E10) Lys>Gln
HbVar.604 commonName Hb F-Brooklyn
HbVar.604 ethnic Caucasian
HbVar.604 phenoCommon Hemoglobin variant
HbVar.605 protEffect HBG2 73(E16) Gly>Arg
HbVar.605 commonName Hb F-Minoo
HbVar.605 ethnic Japanese
HbVar.605 phenoCommon Hemoglobin variant
HbVar.606 protEffect HBG2 76(E19) Ile>Thr
HbVar.606 commonName Hb F-Lesvos
HbVar.606 alias Hb F-Waynesboro
HbVar.606 alias Hb F-Sassari
HbVar.606 phenoCommon Hemoglobin variant
HbVar.607 protEffect HBG2 78(EF1) His>Arg
HbVar.607 commonName Hb F-Kennestone
HbVar.607 ethnic Caucasian
HbVar.607 phenoCommon Hemoglobin variant
HbVar.608 protEffect HBG2 81(EF4) Asp>Asn
HbVar.608 commonName Hb F-Marietta
HbVar.608 ethnic Caucasian
HbVar.608 phenoCommon Hemoglobin variant
HbVar.609 protEffect HBG2 93(F8) His>Tyr
HbVar.609 commonName Hb F-M-Fort Ripley
HbVar.609 ethnic American
HbVar.609 ethnic Canadian
HbVar.609 phenoCommon Hemoglobin variant
HbVar.610 protEffect HBG2 95(FG1) Asp>Asn
HbVar.610 commonName Hb F-Columbus-GA
HbVar.610 ethnic Caucasian
HbVar.610 phenoCommon Hemoglobin variant
HbVar.611 protEffect HBG2 102(G3) Glu>Lys
HbVar.611 commonName Hb F-La Grange
HbVar.611 ethnic Caucasian
HbVar.611 phenoCommon Hemoglobin variant
HbVar.612 protEffect HBG2 105(G6) Lys>Asn
HbVar.612 commonName Hb F-Macedonia-II
HbVar.612 ethnic Macedonian
HbVar.612 phenoCommon Hemoglobin variant
HbVar.613 protEffect HBG2 118(G19) His>Arg
HbVar.613 commonName Hb F-Malta-I
HbVar.613 ethnic Maltese
HbVar.613 ethnic Italian
HbVar.613 phenoCommon Hemoglobin variant
HbVar.614 protEffect HBG2 121(GH3) Lys>Gln
HbVar.614 commonName Hb F-Caltech
HbVar.614 ethnic French
HbVar.614 ethnic Swedish
HbVar.614 ethnic Hispanic
HbVar.614 phenoCommon Hemoglobin variant
HbVar.615 protEffect HBG2 122(GH4) Glu>Lys
HbVar.615 commonName Hb F-Carlton
HbVar.615 ethnic Italian
HbVar.615 phenoCommon Hemoglobin variant
HbVar.616 protEffect HBG2 126(H3) Glu>Ala
HbVar.616 commonName Hb F-Port Royal
HbVar.616 ethnic Black
HbVar.616 phenoCommon Hemoglobin variant
HbVar.617 protEffect HBG2 131(H8) Trp>Gly
HbVar.617 commonName Hb F-Poole
HbVar.617 ethnic Black
HbVar.617 ethnic Caucasian
HbVar.617 phenoCommon Hemoglobin variant
HbVar.618 protEffect HBG2 147(HC3) His>Tyr
HbVar.618 commonName Hb F-Onoda
HbVar.618 ethnic Japanese
HbVar.618 phenoCommon Hemoglobin variant
HbVar.619 protEffect HBG1 3(NA2) His>Gln
HbVar.619 commonName Hb F-Macedonia-I
HbVar.619 ethnic Macedonian
HbVar.619 phenoCommon Hemoglobin variant
HbVar.620 protEffect HBG1 6(A2) Glu>Lys
HbVar.620 commonName Hb F-Texas-I
HbVar.620 ethnic Black
HbVar.620 phenoCommon Hemoglobin variant
HbVar.621 protEffect HBG1 7(A3) Glu>Gly
HbVar.621 commonName Hb F-Kotobuki
HbVar.621 alias Hb F-Izumi
HbVar.621 ethnic Japanese
HbVar.621 phenoCommon Hemoglobin variant
HbVar.622 protEffect HBG1 7(A3) Glu>Gln
HbVar.622 commonName Hb F-Pordenone
HbVar.622 ethnic Italian
HbVar.622 phenoCommon Hemoglobin variant
HbVar.623 protEffect HBG1 13(A9) Thr>Arg
HbVar.623 commonName Hb F-Calluna
HbVar.623 ethnic Caucasian
HbVar.623 phenoCommon Hemoglobin variant
HbVar.624 protEffect HBG1 23(B4) Asp>Gly
HbVar.624 commonName Hb F-Kuala Lumpur
HbVar.624 ethnic Indian
HbVar.624 phenoCommon Hemoglobin variant
HbVar.625 protEffect HBG1 37(C2) Pro>Arg
HbVar.625 commonName Hb F-Pendergrass
HbVar.625 ethnic Caucasian
HbVar.625 phenoCommon Hemoglobin variant
HbVar.626 protEffect HBG1 38(C3) Trp>Gly
HbVar.626 commonName Hb F-Cobb
HbVar.626 ethnic Caucasian
HbVar.626 phenoCommon Hemoglobin variant
HbVar.627 protEffect HBG1 40(C5) Gln>Arg
HbVar.627 commonName Hb F-Bonaire-GA
HbVar.627 ethnic Caucasian
HbVar.627 ethnic Vietnamese
HbVar.627 phenoCommon Hemoglobin variant
HbVar.628 protEffect HBG1 41(C6) Arg>Lys
HbVar.628 commonName Hb F-Woodstock
HbVar.628 ethnic Black
HbVar.628 phenoCommon Hemoglobin variant
HbVar.629 protEffect HBG1 54(D4) Ala>Asp
HbVar.629 commonName Hb F-Beech Island
HbVar.629 ethnic Black
HbVar.629 ethnic Caucasian
HbVar.629 phenoCommon Hemoglobin variant
HbVar.630 protEffect HBG1 62(E5) Lys>Glu
HbVar.630 commonName Hb F-Jamaica
HbVar.630 phenoCommon Hemoglobin variant
HbVar.631 protEffect HBG1 73(E16) Gly>Arg
HbVar.631 commonName Hb F-Iwata
HbVar.631 ethnic Japanese
HbVar.631 phenoCommon Hemoglobin variant
HbVar.632 protEffect HBG1 74(E17) Asp>His
HbVar.632 commonName Hb F-Xin-Su
HbVar.632 ethnic Chinese
HbVar.632 phenoCommon Hemoglobin variant
HbVar.633 protEffect HBG1 76(E19) Ile>Thr
HbVar.633 commonName Hb F-Sardinia (AgammaT)
HbVar.633 phenoCommon Hemoglobin variant
HbVar.634 protEffect HBG1 80(EF3) Asp>Asn
HbVar.634 commonName Hb F-Dammam
HbVar.634 ethnic Arabian
HbVar.634 phenoCommon Hemoglobin variant
HbVar.635 protEffect HBG1 81(EF4) Asp>Tyr
HbVar.635 commonName Hb F-Victoria Jubilee
HbVar.635 ethnic Black
HbVar.635 phenoCommon Hemoglobin variant
HbVar.636 protEffect HBG1 98(FG4) His>Arg
HbVar.636 commonName Hb F-Dickinson
HbVar.636 phenoCommon Hemoglobin variant
HbVar.637 protEffect HBG1 122(GH4) Glu>Lys
HbVar.637 commonName Hb F-Hull
HbVar.637 ethnic English
HbVar.637 phenoCommon Hemoglobin variant
HbVar.638 protEffect HBG1 129(H6) Ala>Thr
HbVar.638 commonName Hb F-Baskent
HbVar.638 ethnic Turkish
HbVar.638 phenoCommon Hemoglobin variant
HbVar.639 protEffect HBG1 135(H12) Val>Met
HbVar.639 commonName Hb F-Jiangsu
HbVar.639 ethnic Chinese
HbVar.639 phenoCommon Hemoglobin variant
HbVar.640 protEffect HBG1 or HBG2 7(A3) Glu>Lys
HbVar.640 commonName Hb F-Texas-II
HbVar.640 ethnic English
HbVar.640 phenoCommon Hemoglobin variant
HbVar.641 protEffect HBG2 or HBG1 13(A9) Thr>Lys
HbVar.641 commonName Hb F-Alexandra
HbVar.641 ethnic Greek
HbVar.641 ethnic Swiss
HbVar.641 phenoCommon Hemoglobin variant
HbVar.642 protEffect HBG1 or HBG2 109(G10) Asn>Lys
HbVar.642 commonName Hb F-Ube
HbVar.642 ethnic Japanese
HbVar.642 phenoCommon Hemoglobin variant
HbVar.643 protEffect HBG1 24(B5) Ala->0
HbVar.643 commonName Hb F-Mauritius
HbVar.643 phenoCommon Hemoglobin variant
HbVar.644 protEffect HBG1 26(B7) Gly>Arg
HbVar.644 commonName Hb F-Xinjiang
HbVar.644 ethnic Chinese
HbVar.644 phenoCommon Hemoglobin variant
HbVar.645 protEffect HBG1 44(CD2) Asp>Asn
HbVar.645 commonName Hb F-Fukuyama
HbVar.645 ethnic Japanese
HbVar.645 phenoCommon Hemoglobin variant
HbVar.646 protEffect HBG1 74(E17) Asp>Asn
HbVar.646 commonName Hb F-Forest Park
HbVar.646 ethnic Caucasian
HbVar.646 phenoCommon Hemoglobin variant
HbVar.647 protEffect HBG1 81(EF4) Asp>Asn
HbVar.647 commonName Hb F-Yamaguchi
HbVar.647 ethnic Japanese
HbVar.647 phenoCommon Hemoglobin variant
HbVar.648 protEffect HBG1 122(GH4) Glu>Lys
HbVar.648 commonName Hb F-Siena
HbVar.648 ethnic Italian
HbVar.648 phenoCommon Hemoglobin variant
HbVar.649 commonName -101 (C->T) beta+ (silent)
HbVar.649 ethnic United Arab Emirates
HbVar.649 ethnic Italian
HbVar.649 ethnic Sicilian
HbVar.649 ethnic Greek
HbVar.649 ethnic Turkish
HbVar.649 ethnic Bulgarian
HbVar.649 phenoCommon beta+ thalassemia
HbVar.650 protEffect HBD 2(NA1) Val>Ala
HbVar.650 commonName Hb A2-Niigata
HbVar.650 ethnic Japanese
HbVar.650 phenoCommon Hemoglobin variant
HbVar.651 protEffect HBD 3(NA2) His>Arg
HbVar.651 commonName Hb A2-Sphakia
HbVar.651 ethnic Cretan
HbVar.651 ethnic Mediterranean
HbVar.651 phenoCommon Hemoglobin variant
HbVar.652 protEffect HBD 12(A8) Val>Gly
HbVar.652 commonName Hb A2-Pylos
HbVar.652 ethnic Greek
HbVar.652 phenoCommon Hemoglobin variant
HbVar.653 protEffect HBD 13(A9) Asn>Lys
HbVar.653 commonName Hb A2-NYU
HbVar.653 ethnic Russian
HbVar.653 ethnic Greek
HbVar.653 ethnic Jewish
HbVar.653 ethnic Ukrainian
HbVar.653 ethnic Dutch
HbVar.653 phenoCommon Hemoglobin variant
HbVar.654 protEffect HBD 17(A13) Gly>Arg
HbVar.654 commonName Hb A2' or Hb B2
HbVar.654 ethnic Black
HbVar.654 ethnic African-American
HbVar.654 phenoCommon Hemoglobin variant
HbVar.655 protEffect HBD 21(B2) Val>Glu
HbVar.655 commonName Hb A2-Roosevelt
HbVar.655 ethnic Iraqi
HbVar.655 phenoCommon Hemoglobin variant
HbVar.656 protEffect HBD 23(B4) Ala>Glu
HbVar.656 commonName Hb A2-Flatbush
HbVar.656 ethnic Black
HbVar.656 phenoCommon Hemoglobin variant
HbVar.657 protEffect HBD 25(B6) Gly>Asp
HbVar.657 commonName Hb A2-Victoria
HbVar.657 ethnic Iraqi
HbVar.657 phenoCommon Hemoglobin variant
HbVar.658 protEffect HBD 26(B7) Gly>Asp
HbVar.658 commonName Hb A2-Yokoshima
HbVar.658 ethnic Japanese
HbVar.658 phenoCommon Hemoglobin variant
HbVar.659 protEffect HBD 27(B8) Glu>Asp
HbVar.659 commonName Hb A2-Puglia
HbVar.659 ethnic Italian
HbVar.659 phenoCommon Hemoglobin variant
HbVar.660 protEffect HBD 28(B9) Ala>Ser
HbVar.660 commonName Hb A2-Yialousa
HbVar.660 alias Codon 27 (GCC->TCC) delta+
HbVar.660 ethnic Greek
HbVar.660 ethnic Greek Cypriot
HbVar.660 ethnic Sardinian
HbVar.660 phenoCommon Thalassemia
HbVar.661 protEffect HBD 37(C2) Pro>His
HbVar.661 commonName Hb A2-Metaponto
HbVar.661 ethnic Italian
HbVar.661 phenoCommon Hemoglobin variant
HbVar.662 protEffect HBD 44(CD2) Glu>Lys
HbVar.662 commonName Hb A2-Melbourne
HbVar.662 ethnic Italian
HbVar.662 phenoCommon Hemoglobin variant
HbVar.663 protEffect HBD 44(CD2) Glu>Gly
HbVar.663 commonName Hb A2-Agrinio
HbVar.663 ethnic Greek
HbVar.663 phenoCommon Hemoglobin variant
HbVar.664 protEffect HBD 48(CD6) Asp>Val
HbVar.664 commonName Hb A2-Parkville
HbVar.664 ethnic Italian
HbVar.664 phenoCommon Hemoglobin variant
HbVar.665 protEffect HBD 52(D2) Pro>Arg
HbVar.665 commonName Hb A2-Adria
HbVar.665 ethnic Italian
HbVar.665 phenoCommon Hemoglobin variant
HbVar.666 protEffect HBD 70(E13) Gly>Arg
HbVar.666 commonName Hb A2-Indonesia
HbVar.666 ethnic Indonesian
HbVar.666 ethnic Malay
HbVar.666 phenoCommon Hemoglobin variant
HbVar.667 protEffect HBD 76(E19) Leu>Val
HbVar.667 commonName Hb A2-Grovetown
HbVar.667 ethnic Black
HbVar.667 phenoCommon Hemoglobin variant
HbVar.668 protEffect HBD 84(EF7) Gly>Asp
HbVar.668 commonName Hb A2-Nishishinbashi
HbVar.668 ethnic Japanese
HbVar.668 phenoCommon Hemoglobin variant
HbVar.669 protEffect HBD 86(F1) Phe>Ser
HbVar.669 commonName Hb A2-Etolia
HbVar.669 ethnic Greek
HbVar.669 phenoCommon Hemoglobin variant
HbVar.670 protEffect HBD 91(F6) Glu>Val
HbVar.670 commonName Hb A2-Honai
HbVar.670 ethnic Japanese
HbVar.670 phenoCommon Hemoglobin variant
HbVar.671 protEffect HBD 94(F9) Cys>Gly
HbVar.671 commonName Hb A2-Sant' Antioco
HbVar.671 ethnic Sardinian
HbVar.671 phenoCommon Hemoglobin variant
HbVar.672 protEffect HBD 99(FG5) Val>Met
HbVar.672 commonName Hb A2-Wrens
HbVar.672 alias Codon 98 (GTG->ATG) delta+
HbVar.672 ethnic Black
HbVar.672 phenoCommon delta+ thalassemia
HbVar.673 protEffect HBD 100(G1) Asp>Asn
HbVar.673 commonName Hb A2-Canada
HbVar.673 ethnic Indian
HbVar.673 phenoCommon Hemoglobin variant
HbVar.674 protEffect HBD 117(G18) Arg>His
HbVar.674 commonName Hb A2-Coburg
HbVar.674 ethnic Sicilian
HbVar.674 phenoCommon Hemoglobin variant
HbVar.675 protEffect HBD 117(G18) Arg>Cys
HbVar.675 commonName Hb A2-Troodos
HbVar.675 ethnic Cypriot
HbVar.675 phenoCommon Hemoglobin variant
HbVar.676 protEffect HBD 118(G19) Asn>Asp
HbVar.676 commonName Hb A2-Liangcheng
HbVar.676 ethnic Chinese
HbVar.676 phenoCommon Hemoglobin variant
HbVar.677 protEffect HBD 122(GH4) Glu>Val
HbVar.677 commonName Hb A2-Manzanares
HbVar.677 ethnic Spanish
HbVar.677 phenoCommon Hemoglobin variant
HbVar.678 protEffect HBD 126(H3) Gln>Glu
HbVar.678 commonName Hb A2-Zagreb
HbVar.678 ethnic Yugoslavian
HbVar.678 phenoCommon Hemoglobin variant
HbVar.679 protEffect HBD 137(H14) Gly>Asp
HbVar.679 commonName Hb A2-Babinga
HbVar.679 ethnic Black
HbVar.679 ethnic Babinga Pygmies
HbVar.679 phenoCommon Hemoglobin variant
HbVar.680 protEffect HBD 142(H19) Leu>Pro
HbVar.680 commonName Hb A2-Pelendri
HbVar.680 ethnic Cypriot
HbVar.680 phenoCommon Hemoglobin variant
HbVar.681 protEffect HBD 143(H20) Ala>Asp
HbVar.681 commonName Hb A2-Fitzroy
HbVar.681 ethnic Greek
HbVar.681 phenoCommon Hemoglobin variant
HbVar.682 protEffect HBA2 80(EF8) Ala>Gly
HbVar.682 commonName Hb J-Singapore
HbVar.682 ethnic Malay
HbVar.682 phenoCommon Hemoglobin variant
HbVar.683 protEffect HBB 7(A3) Glu>Val AND HBB 24(B5) Val>Ile
HbVar.683 commonName Hb S-Antilles
HbVar.683 ethnic French West Indies
HbVar.683 phenoCommon Hemoglobin variant
HbVar.684 protEffect HBB 7(A3) Glu>Val AND HBB 59(E2) Pro>Arg
HbVar.684 commonName Hb C-Ziguinchor
HbVar.684 ethnic African
HbVar.684 phenoCommon Hemoglobin variant
HbVar.685 protEffect HBB 7(A3) Glu>Val AND HBB 74(E17) Asp>Asn
HbVar.685 commonName Hb C-Harlem
HbVar.685 alias Hb C-Georgetown
HbVar.685 ethnic Black
HbVar.685 phenoCommon Hemoglobin variant
HbVar.686 protEffect HBB 7(A3) Glu>Val AND HBB 83(EF6) Lys>Asn
HbVar.686 commonName Hb S-Providence
HbVar.686 ethnic West African
HbVar.686 phenoCommon Hemoglobin variant
HbVar.687 protEffect HBB 7(A3) Glu>Val AND HBB 122(GH4) Glu>Lys
HbVar.687 commonName Hb S-Oman
HbVar.687 ethnic Oman
HbVar.687 phenoCommon Hemoglobin variant
HbVar.688 protEffect HBB 7(A3) Glu>Val AND HBB 143(H20) Ala>Val
HbVar.688 commonName Hb S-Travis
HbVar.688 ethnic Black
HbVar.688 phenoCommon Hemoglobin variant
HbVar.689 protEffect HBB 7(A3) Glu>Lys AND HBB 38(C3) Trp>Arg
HbVar.689 commonName Hb C-Rothschild
HbVar.689 ethnic Nigerian
HbVar.689 phenoCommon Hemoglobin variant
HbVar.690 protEffect HBB 7(A3) Glu>Lys AND HBB 96(FG2) Lys>Glu
HbVar.690 commonName Hb Arlington Park
HbVar.690 ethnic Black
HbVar.690 phenoCommon Hemoglobin variant
HbVar.691 protEffect HBB 27(B8) Glu>Lys AND HBB 105(G6) Arg>Thr
HbVar.691 commonName Hb Corbeil
HbVar.691 ethnic French
HbVar.691 phenoCommon Hemoglobin variant
HbVar.692 protEffect HBB 27(B8) Glu>Lys AND HBB 122(GH4) Glu>Gln
HbVar.692 commonName Hb T-Cambodia
HbVar.692 ethnic Cambodian
HbVar.692 phenoCommon Hemoglobin variant
HbVar.692 phenoCommon Normal
HbVar.692 phenoCommon mild Anemia
HbVar.692 phenoCommon hemolytic Anemia
HbVar.692 phenoCommon Target cells
HbVar.693 protEffect HBB 52(D2) Pro>Ser AND HBB 53(D3) Asp>Asn
HbVar.693 commonName Hb Grenoble
HbVar.693 ethnic French
HbVar.693 phenoCommon Hemoglobin variant
HbVar.694 protEffect HBB 57(D7) Gly>Arg AND HBB 87(F2) Ala>Pro
HbVar.694 commonName Hb Poissy
HbVar.694 ethnic French
HbVar.694 phenoCommon Hemoglobin variant
HbVar.695 protEffect HBB 76(E19) Leu>Pro AND HBB 142(H19) Leu->0
HbVar.695 commonName Hb Atlanta-Coventry
HbVar.695 phenoCommon Hemoglobin variant
HbVar.696 protEffect HBB 78(EF1) His>Tyr AND HBB 81(EF4) Asn>Ser
HbVar.696 commonName Hb Villeparisis
HbVar.696 ethnic French
HbVar.696 phenoCommon Hemoglobin variant
HbVar.697 protEffect HBB 93(F8) His>Pro AND HBB 105(G6) Arg>Ser
HbVar.697 commonName Hb Duino
HbVar.697 ethnic Italian
HbVar.697 phenoCommon Hemoglobin variant
HbVar.698 protEffect HBB 99(FG5) Val>Met AND HBB 33(B14) Leu>Gln
HbVar.698 commonName Hb Medicine Lake
HbVar.698 alias Codon 32 (T->A) CTG->CAG; codon 98 (G->A) GTG->ATG beta0
HbVar.698 ethnic Caucasian
HbVar.698 phenoCommon beta0 thalassemia
HbVar.699 protEffect HBB 120(GH2) Gly>Asp
HbVar.699 commonName Hb Fannin-Lubbock I
HbVar.699 ethnic Mexican
HbVar.699 ethnic American
HbVar.699 ethnic Spanish
HbVar.699 phenoCommon Hemoglobin variant
HbVar.700 protEffect HBB 115(G16) Leu>Met AND HBB 120(GH2) Gly>Asp
HbVar.700 commonName Hb Masuda
HbVar.700 ethnic Japanese
HbVar.700 phenoCommon Hemoglobin variant
HbVar.701 protEffect HBB 122(GH4) Glu>Gln AND HBB 94(F9) Cys>Arg
HbVar.701 commonName Hb Cleveland
HbVar.701 phenoCommon Hemoglobin variant
HbVar.702 protEffect HBA2 or HBA1 140 (-A); modified C-terminal sequence: (140)Asn-Thr-Val-Lys-Leu-Glu-Pro-(147)Arg-COOH
HbVar.702 commonName Hb Wayne
HbVar.702 ethnic Caucasian
HbVar.702 phenoCommon Hemoglobin variant
HbVar.703 protEffect HBA2 143, Stop>Gln; modified C-terminal sequence: (143)Gln-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.703 commonName Hb Constant Spring (Hb CS)
HbVar.703 alias Codon 142 (TAA->CAA) of the alpha2 gene alpha-Thal-2
HbVar.703 ethnic Arabian
HbVar.703 ethnic Cambodian
HbVar.703 ethnic Chinese
HbVar.703 ethnic Greek
HbVar.703 ethnic Indian
HbVar.703 ethnic Indonesian
HbVar.703 ethnic Laotian
HbVar.703 ethnic Malasian
HbVar.703 ethnic Sicilian
HbVar.703 ethnic Vietnamese
HbVar.703 phenoCommon alpha-2 thalassemia
HbVar.704 protEffect HBA2 143, Stop>Lys; modified C-terminal sequence: (143)Lys-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.704 commonName Hb Icaria
HbVar.704 alias Codon 142 (TAA->AAA) of the alpha2 gene alpha-Thal-2
HbVar.704 ethnic Macedonian
HbVar.704 ethnic Greek
HbVar.704 ethnic Balkan
HbVar.704 phenoCommon alpha-2 thalassemia
HbVar.705 protEffect HBA2 143, Stop>Ser; modified C-terminal sequence: (143)Ser-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.705 commonName Hb Koya Dora
HbVar.705 alias Codon 142 (TAA->TCA) of the alpha2 gene alpha-Thal-2
HbVar.705 ethnic Koya Dora
HbVar.705 phenoCommon alpha-2 thalassemia
HbVar.705 phenoCommon mild Anemia
HbVar.705 phenoCommon Microcytosis
HbVar.705 phenoCommon Hypochromia
HbVar.706 protEffect HBA2 143, Stop>Glu; modified C-terminal sequence: (143)Glu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.706 commonName Hb Seal Rock
HbVar.706 alias Codon 142 (TAA->GAA) of the alpha2 gene alpha-Thal-2
HbVar.706 ethnic Black
HbVar.706 phenoCommon alpha-2 thalassemia
HbVar.707 protEffect HBA2 143, Stop>Tyr; modified C-terminal sequence: (143)Tyr-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.707 commonName Hb Pakse
HbVar.707 alias Codon 142 (TAA->TAT) of the alpha2 gene alpha-Thal-2
HbVar.707 ethnic Laotian
HbVar.707 ethnic Thai
HbVar.707 phenoCommon Thalassemia
HbVar.708 protEffect HBB 144 (-A); modified C-terminal sequence: (144)Pro-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH
HbVar.708 commonName Hb Saverne
HbVar.708 ethnic French
HbVar.708 phenoCommon Hemoglobin variant
HbVar.709 protEffect HBB 146(+CT); modified C-terminal sequence: (146)Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH
HbVar.709 commonName Hb Cranston
HbVar.709 ethnic Italian
HbVar.709 ethnic American
HbVar.709 phenoCommon Hemoglobin variant
HbVar.710 protEffect HBB 148(+AC); modified C-terminal sequence: (148)Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(158)Tyr-COOH
HbVar.710 commonName Hb Tak
HbVar.710 ethnic Thai
HbVar.710 phenoCommon Hemoglobin variant
HbVar.711 protEffect HBA2 or HBA1 2(NA1) Val>Glu
HbVar.711 commonName Hb Thionville
HbVar.711 phenoCommon Hemoglobin variant
HbVar.712 protEffect HBB 2(NA1) Val>Glu
HbVar.712 commonName Hb Doha
HbVar.712 ethnic Qatari
HbVar.712 phenoCommon Hemoglobin variant
HbVar.713 protEffect HBB 2(NA1) Val>Met
HbVar.713 commonName Hb South Florida
HbVar.713 ethnic Caucasian
HbVar.713 phenoCommon Hemoglobin variant
HbVar.714 protEffect HBB 3(NA2) His>Pro
HbVar.714 commonName Hb Marseille
HbVar.714 alias Hb Long Island-Marseille
HbVar.714 ethnic French
HbVar.714 ethnic American
HbVar.714 ethnic Australian
HbVar.714 ethnic Maltese
HbVar.714 phenoCommon Hemoglobin variant
HbVar.715 protEffect HBA1 or HBA2 7(A4) Asp->0
HbVar.715 commonName Hb Boyle Heights
HbVar.715 ethnic Mexican
HbVar.715 phenoCommon Hemoglobin variant
HbVar.716 protEffect HBA1 39(C3) Thr->0 OR HBA1 40(C4) Thr->0
HbVar.716 commonName Hb Taybe
HbVar.716 alias Codons 38/39 (-ACC); deleted from the alpha1-globin gene alpha-Thal-2
HbVar.716 ethnic Arabian
HbVar.716 phenoCommon alpha-2 thalassemia
HbVar.716 phenoCommon severe Anemia
HbVar.716 phenoCommon chronic Anemia
HbVar.716 phenoCommon hemolytic Anemia
HbVar.717 protEffect HBA1 52(CE9) - 59(E7) Gly-Ser-Ala-Gln-Val-Lys-Gly-His->0 OR HBA1 53(E1) - 60(E8) Ser-Ala-Gln-Val-Lys-Gly-His-Gly->0
HbVar.717 commonName Hb J-Biskra
HbVar.717 ethnic Algerian
HbVar.717 phenoCommon Hemoglobin variant
HbVar.718 protEffect HBA2 75(EF3) Asp->0 OR HBA2 76(EF4) Asp->0
HbVar.718 commonName Hb Watts
HbVar.718 ethnic Mexican
HbVar.718 ethnic American
HbVar.718 phenoCommon Hemoglobin variant
HbVar.719 protEffect HBA2 141(HC2) Tyr-Arg->0
HbVar.719 commonName Hb Natal
HbVar.719 ethnic Asian Indian
HbVar.719 phenoCommon Hemoglobin variant
HbVar.720 protEffect HBB 7(A3) Glu->0 OR HBB 8(A4) Glu->0
HbVar.720 commonName Hb Leiden
HbVar.720 ethnic Netherlands
HbVar.720 ethnic Chinese
HbVar.720 ethnic American
HbVar.720 ethnic South African
HbVar.720 ethnic Mexican
HbVar.720 ethnic Yugoslavian
HbVar.720 phenoCommon Hemoglobin variant
HbVar.721 protEffect HBB 18(A14) - 19(A15) Lys-Val->0
HbVar.721 commonName Hb Lyon
HbVar.721 ethnic French
HbVar.721 ethnic Spanish
HbVar.721 ethnic North African
HbVar.721 phenoCommon Hemoglobin variant
HbVar.722 protEffect HBB 24(B5) Val->0
HbVar.722 commonName Hb Freiburg
HbVar.722 ethnic German
HbVar.722 phenoCommon Hemoglobin variant
HbVar.723 protEffect HBB 25(B6) Gly->0 OR HBB 26(B7) Gly->0
HbVar.723 commonName Hb Higashitochigi (Hb HT)
HbVar.723 ethnic Japanese
HbVar.723 phenoCommon Hemoglobin variant
HbVar.724 protEffect HBB 42(C7) Phe->0 OR HBB 43(CD1) Phe->0
HbVar.724 commonName Hb Bruxelles
HbVar.724 ethnic Belgian
HbVar.724 phenoCommon Hemoglobin variant
HbVar.725 protEffect HBB 43(CD1) - 45(CD3) Phe-Glu-Ser->0 OR HBB 44(CD2) - 46(CD4) Glu-Ser-Phe->0
HbVar.725 commonName Hb Niteroi
HbVar.725 ethnic Brazilian
HbVar.725 phenoCommon Hemoglobin variant
HbVar.726 protEffect HBB 57(D7) - 60(E3) Gly-Asn-Pro-Lys->0
HbVar.726 commonName Hb Tochigi
HbVar.726 ethnic Japanese
HbVar.726 phenoCommon Hemoglobin variant
HbVar.727 protEffect HBB 75(E18) - 76(E19) Gly-Leu->0
HbVar.727 commonName Hb Saint-Antoine
HbVar.727 ethnic Mediterranean
HbVar.727 phenoCommon Hemoglobin variant
HbVar.728 protEffect HBB 76(E19) Leu->0
HbVar.728 commonName Hb Vicksburg
HbVar.728 ethnic Black
HbVar.728 phenoCommon Hemoglobin variant
HbVar.729 protEffect HBB 88(F3) Thr->0
HbVar.729 commonName Hb Tours
HbVar.729 ethnic French
HbVar.729 phenoCommon Hemoglobin variant
HbVar.730 protEffect HBB 92(F7) - 96(FG2) Leu-His-Cys-Asp-Lys->0
HbVar.730 commonName Hb Gun Hill
HbVar.730 ethnic German
HbVar.730 ethnic English
HbVar.730 ethnic Black
HbVar.730 phenoCommon Hemoglobin variant
HbVar.731 protEffect HBB 142(H19) Leu->0
HbVar.731 commonName Hb Coventry
HbVar.731 phenoCommon Hemoglobin variant
HbVar.732 protEffect Glu- inserted between codons 38(C2) and 39(C3) of HBA1 or HBA2
HbVar.732 commonName Hb Catonsville
HbVar.732 phenoCommon Hemoglobin variant
HbVar.733 protEffect His-Leu-Pro-Ala-Glu- inserted between codons 117(GH4) and 118(GH5) of HBA1 or HBA2
HbVar.733 commonName Hb Zaire
HbVar.733 ethnic Zairian
HbVar.733 phenoCommon Hemoglobin variant
HbVar.734 protEffect I- inserted between codons 118(GH5) and 119(H1) of HBA1
HbVar.734 commonName Hb Phnom Penh
HbVar.734 ethnic Cambodian
HbVar.734 phenoCommon Hemoglobin variant
HbVar.735 protEffect Glu-Phe-Thr- inserted between codons 119(H1) and 120(H2) of HBA1 or HBA2
HbVar.735 commonName Hb Grady
HbVar.735 ethnic Black
HbVar.735 phenoCommon Hemoglobin variant
HbVar.736 protEffect Glu-Leu-His-Cys-Asp- inserted between codons 95(FG1) and 96(FG2) of HBB
HbVar.736 commonName Hb Fairfax
HbVar.736 ethnic African-American
HbVar.736 phenoCommon Hemoglobin variant
HbVar.737 protEffect Leu-His-Cys-Asp-Lys- inserted between codons 96(FG2) and 97(FG3) of HBB
HbVar.737 commonName Hb Koriyama
HbVar.737 ethnic Japanese
HbVar.737 phenoCommon Hemoglobin variant
HbVar.738 protEffect HBB 74(E17) - 76(E19) Asp-Gly-Leu->0 AND Ala-Arg-Cys-Gln- inserted between codons 73(E16) and 77(E20) of HBB
HbVar.738 commonName Hb Montreal
HbVar.738 ethnic French Canadian
HbVar.738 phenoCommon Hemoglobin variant
HbVar.739 protEffect HBB 98(FG4) - 99(FG5) His-Val->0 AND inserted Leu
HbVar.739 commonName Hb Galicia
HbVar.739 ethnic Spanish
HbVar.739 phenoCommon Hemoglobin variant
HbVar.740 protEffect HBB 140(H17) Asn>Tyr AND HBB 139(H16) Ala->0
HbVar.740 commonName Hb Nijkerk
HbVar.740 alias Hb Nykerk
HbVar.740 ethnic Dutch
HbVar.740 phenoCommon Hemoglobin variant
HbVar.741 protEffect HBB 142(H19) - 145(HC1) Leu-Ala-His-Lys->0 AND inserted Gln
HbVar.741 commonName Hb Birmingham
HbVar.741 ethnic Black
HbVar.741 phenoCommon Hemoglobin variant
HbVar.742 protEffect delta-beta hybrid (HBD through 23; HBB from 50)
HbVar.742 commonName Hb Lepore-Hollandia
HbVar.742 ethnic Papuan
HbVar.742 phenoCommon Thalassemia
HbVar.743 protEffect delta-beta hybrid (HBD through 51; HBB from 86)
HbVar.743 commonName Hb Lepore-Baltimore
HbVar.743 ethnic Spanish
HbVar.743 ethnic African
HbVar.743 ethnic Yugoslavian
HbVar.743 phenoCommon Thalassemia
HbVar.744 protEffect delta-beta hybrid (HBD through 88; HBB from 116)
HbVar.744 commonName Hb Lepore-Boston-Washington
HbVar.744 ethnic Australian
HbVar.744 ethnic Cuban
HbVar.744 ethnic Cypriot
HbVar.744 ethnic English
HbVar.744 ethnic Greek
HbVar.744 ethnic Italian
HbVar.744 ethnic Jamaican
HbVar.744 ethnic Mexican
HbVar.744 ethnic Rumanian
HbVar.744 ethnic Turkish
HbVar.744 ethnic Yugoslavian
HbVar.744 phenoCommon Thalassemia
HbVar.745 protEffect delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBD through 13; HBB from 22) AND delta-beta hybrid (delta through 13; beta from 22) AND beta-delta hybrid (HBB through 50; HBD from 86)
HbVar.745 commonName Hb Parchman
HbVar.745 ethnic Black
HbVar.745 phenoCommon Hemoglobin variant
HbVar.746 protEffect beta-delta hybrid (HBB through 13; HBD from 22)
HbVar.746 commonName Hb Miyada
HbVar.746 ethnic Japanese
HbVar.746 ethnic Italian
HbVar.746 phenoCommon Hemoglobin variant
HbVar.747 protEffect beta-delta hybrid (HBB through 23; HBD from 116)
HbVar.747 commonName Hb P-Congo
HbVar.747 ethnic Congolese
HbVar.747 phenoCommon Hemoglobin variant
HbVar.749 protEffect HBD 138(H15) Val->0
HbVar.749 commonName Hb Lincoln Park
HbVar.749 ethnic Mexican
HbVar.749 phenoCommon Hemoglobin variant
HbVar.750 protEffect beta-delta hybrid (HBB through 88; HBD from 116)
HbVar.750 commonName Hb P-India
HbVar.750 ethnic Indian
HbVar.750 phenoCommon Hemoglobin variant
HbVar.751 protEffect Agamma-beta hybrid (HBG1 through 81; HBB from 87)
HbVar.751 commonName Hb Kenya
HbVar.751 alias HPFH-7; Kenya
HbVar.751 ethnic African-American
HbVar.751 ethnic Kenyan
HbVar.751 ethnic Ugandan
HbVar.751 phenoCommon Thalassemia
HbVar.752 commonName -92 (C->T) beta+ (mild)
HbVar.752 ethnic Italian
HbVar.752 ethnic Sicilian
HbVar.752 phenoCommon beta+ thalassemia
HbVar.753 protEffect HBA1 120(H2) Pro>Leu
HbVar.753 commonName Hb Diamant
HbVar.753 ethnic French West Indies
HbVar.753 phenoCommon Hemoglobin variant
HbVar.754 commonName -90 (C->T) beta+
HbVar.754 ethnic Portuguese
HbVar.754 phenoCommon beta+ thalassemia
HbVar.755 commonName -88 (C->A) beta+
HbVar.755 ethnic Egyptian
HbVar.755 ethnic Iranian
HbVar.755 ethnic Bahrein
HbVar.755 phenoCommon beta+ thalassemia
HbVar.756 commonName -88 (C->T) beta+
HbVar.756 ethnic Lebanese
HbVar.756 ethnic Pakistani
HbVar.756 ethnic Punjabi
HbVar.756 ethnic Pathan
HbVar.756 ethnic Black
HbVar.756 ethnic Syria
HbVar.756 phenoCommon beta+ thalassemia
HbVar.757 commonName -87 (C->A) beta+
HbVar.757 ethnic Argentine
HbVar.757 ethnic Black
HbVar.757 phenoCommon beta+ thalassemia
HbVar.758 commonName -87 (C->G) beta+
HbVar.758 ethnic Lebanese
HbVar.758 ethnic Jordan
HbVar.758 ethnic Egyptian
HbVar.758 ethnic Italian
HbVar.758 ethnic Sardinian
HbVar.758 ethnic Sicilian
HbVar.758 ethnic Greek
HbVar.758 ethnic Turkish
HbVar.758 ethnic Macedonian
HbVar.758 ethnic Bulgarian
HbVar.758 ethnic Syria
HbVar.758 ethnic Serbian
HbVar.758 ethnic Iranian
HbVar.758 phenoCommon beta+ thalassemia
HbVar.759 commonName -87 (C->T) beta+
HbVar.759 ethnic Italian
HbVar.759 phenoCommon beta+ thalassemia
HbVar.760 commonName -86 (C->A) beta+
HbVar.760 ethnic Italian
HbVar.760 phenoCommon beta+ thalassemia
HbVar.761 commonName -86 (C->G) beta+
HbVar.761 ethnic Thai
HbVar.761 ethnic Lebanese
HbVar.761 phenoCommon beta+ thalassemia
HbVar.762 commonName -32 (C->A) beta+
HbVar.762 ethnic Taiwanese
HbVar.762 phenoCommon beta+ thalassemia
HbVar.763 commonName -31 (A->C) beta+
HbVar.763 ethnic Italian
HbVar.763 phenoCommon beta+ thalassemia
HbVar.764 commonName -31 (A->G) beta+
HbVar.764 ethnic Japanese
HbVar.764 phenoCommon beta+ thalassemia
HbVar.765 commonName -30 (T->A) beta+
HbVar.765 ethnic Lebanese
HbVar.765 ethnic Israel
HbVar.765 ethnic Tunisian
HbVar.765 ethnic Algerian
HbVar.765 ethnic Greek
HbVar.765 ethnic Turkish
HbVar.765 ethnic Macedonian
HbVar.765 ethnic Bulgarian
HbVar.765 ethnic Azerbaijan
HbVar.765 ethnic Syria
HbVar.765 ethnic Iranian
HbVar.765 phenoCommon beta+ thalassemia
HbVar.766 commonName -30 (T->C) beta (0 or + unclear)
HbVar.766 ethnic Chinese
HbVar.766 phenoCommon beta (0 or + unclear) thalassemia
HbVar.767 commonName -29 (A->G) beta+
HbVar.767 ethnic Algerian
HbVar.767 ethnic Malaysian
HbVar.767 ethnic Taiwanese
HbVar.767 ethnic Chinese
HbVar.767 ethnic Black
HbVar.767 phenoCommon beta+ thalassemia
HbVar.768 commonName -28 (A->C) beta+
HbVar.768 ethnic Turkish
HbVar.768 ethnic Azerbaijan
HbVar.768 ethnic Kurdish Jewish
HbVar.768 phenoCommon beta+ thalassemia
HbVar.769 commonName -28 (A->G) beta+
HbVar.769 ethnic Thai
HbVar.769 ethnic Malaysian
HbVar.769 ethnic Taiwanese
HbVar.769 ethnic Chinese
HbVar.769 ethnic Japanese
HbVar.769 phenoCommon beta+ thalassemia
HbVar.770 commonName CAP +1 (A->C) beta+
HbVar.770 ethnic Saudi Arabian
HbVar.770 ethnic Egyptian
HbVar.770 ethnic Pakistani
HbVar.770 ethnic Punjabi
HbVar.770 ethnic Pathan
HbVar.770 ethnic Thai
HbVar.770 ethnic Malaysian
HbVar.770 ethnic Singapore
HbVar.770 ethnic Chinese
HbVar.770 phenoCommon beta+ thalassemia
HbVar.771 commonName 5'UTR; +10 (-T) beta+ (silent)
HbVar.771 ethnic Greek
HbVar.771 phenoCommon beta+ thalassemia
HbVar.772 commonName 5'UTR; +22 (G->A) beta+
HbVar.772 ethnic Bulgarian
HbVar.772 ethnic Azerbaijan
HbVar.772 ethnic Turkish
HbVar.772 phenoCommon beta+ thalassemia
HbVar.773 commonName 5'UTR; +33 (C->G) beta+ (silent)
HbVar.773 ethnic Greek Cypriot
HbVar.773 phenoCommon beta+ thalassemia
HbVar.774 commonName 5'UTR; +43 to +40 (-AAAC) beta+
HbVar.774 ethnic Chinese
HbVar.774 phenoCommon beta+ thalassemia
HbVar.775 protEffect HBB Initiation codon Met>Val
HbVar.775 commonName Initiation codon ATG->GTG beta0
HbVar.775 ethnic Hungarian
HbVar.775 ethnic Singapore
HbVar.775 ethnic Japanese
HbVar.775 phenoCommon beta0 thalassemia
HbVar.776 protEffect HBB Initiation codon Met>Thr
HbVar.776 commonName Initiation codon ATG->ACG beta0
HbVar.776 ethnic Croatian
HbVar.776 ethnic Russian
HbVar.776 ethnic Japanese
HbVar.776 phenoCommon beta0 thalassemia
HbVar.777 protEffect HBB Initiation codon Met>Arg
HbVar.777 commonName Initiation codon ATG->AGG beta0
HbVar.777 ethnic Japanese
HbVar.777 ethnic Korean
HbVar.777 ethnic Northern European
HbVar.777 phenoCommon beta0 thalassemia
HbVar.778 protEffect HBB Initiation codon Met>Ile
HbVar.778 commonName Initiation codon ATG->ATA beta0
HbVar.778 ethnic Japanese
HbVar.778 ethnic Italian
HbVar.778 ethnic Swedish
HbVar.778 phenoCommon beta0 thalassemia
HbVar.779 protEffect HBB Initiation codon Met>Ile
HbVar.779 commonName Initiation codon ATG->ATC beta0
HbVar.779 ethnic Japanese
HbVar.779 phenoCommon beta0 thalassemia
HbVar.780 protEffect HBB Initiation codon Met>Ile
HbVar.780 commonName Initiation codon ATG->ATT beta0
HbVar.780 ethnic Iranian
HbVar.780 phenoCommon beta0 thalassemia
HbVar.781 protEffect HBB 2 (-G); modified C-terminal sequence: (2)Cys-(3)Thr-COOH
HbVar.781 commonName Codon 1 (-G); GTG(Val)->-TG beta0
HbVar.781 ethnic Italian
HbVar.781 ethnic Sardinian
HbVar.781 ethnic Sicilian
HbVar.781 phenoCommon beta0 thalassemia
HbVar.782 protEffect HBB 3(NA2) - 5(A1) His-Leu-Thr->0 AND HBB 3(+CCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT); modified C-terminal sequence: (3)Pro-Glu-Val-Lys-Ser-(8)Ala-COOH
HbVar.782 commonName Codons 2/3/4 (-9 bp; +31 bp); beta0
HbVar.782 ethnic Algerian
HbVar.782 phenoCommon beta0 thalassemia
HbVar.783 protEffect HBB 6 (-CT); modified C-terminal sequence: (6)Arg-Gly-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val- Gly-Gln-Gly-Glu-Arg-(21)Gly-COOH
HbVar.783 commonName Codon 5 (-CT); CCT(Pro)->C-- beta0
HbVar.783 ethnic Lebanese
HbVar.783 ethnic Jordan
HbVar.783 ethnic Israel
HbVar.783 ethnic United Arab Emirates
HbVar.783 ethnic Oman
HbVar.783 ethnic Egyptian
HbVar.783 ethnic Tunisian
HbVar.783 ethnic Italian
HbVar.783 ethnic Sicilian
HbVar.783 ethnic Greek
HbVar.783 ethnic Turkish
HbVar.783 ethnic Macedonian
HbVar.783 ethnic Bulgarian
HbVar.783 ethnic English
HbVar.783 ethnic Iranian
HbVar.783 ethnic Pakistani
HbVar.783 ethnic Punjabi
HbVar.783 ethnic Maharashtran
HbVar.783 ethnic Pathan
HbVar.783 ethnic Syria
HbVar.783 ethnic Albania
HbVar.783 phenoCommon beta0 thalassemia
HbVar.784 protEffect HBB 7 (-A); modified C-terminal sequence: (7)Gly-Arg-Ser-Leu-Pro-Leu-Leu-Pro-Cys-Gly- Ala-(18)Arg-COOH
HbVar.784 commonName Codon 6 (-A); GAG(Glu)->G-G beta0
HbVar.784 ethnic Jordan
HbVar.784 ethnic Saudi Arabian
HbVar.784 ethnic Egyptian
HbVar.784 ethnic Tunisian
HbVar.784 ethnic Algerian
HbVar.784 ethnic Italian
HbVar.784 ethnic Sardinian
HbVar.784 ethnic Sicilian
HbVar.784 ethnic Greek
HbVar.784 ethnic Greek Cypriot
HbVar.784 ethnic Turkish
HbVar.784 ethnic Macedonian
HbVar.784 ethnic Bulgarian
HbVar.784 ethnic Portuguese
HbVar.784 ethnic Spanish
HbVar.784 ethnic Black
HbVar.784 ethnic Argentine
HbVar.784 phenoCommon beta0 thalassemia
HbVar.785 protEffect HBB 9 (-AA); modified C-terminal sequence: (9)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly- Glu-Arg-(21)Gly-COOH
HbVar.785 commonName Codon 8 (-AA); AAG(Lys)->--G beta0
HbVar.785 ethnic Lebanese
HbVar.785 ethnic Israel
HbVar.785 ethnic Kuwaiti
HbVar.785 ethnic United Arab Emirates
HbVar.785 ethnic Egyptian
HbVar.785 ethnic Tunisian
HbVar.785 ethnic Italian
HbVar.785 ethnic Sicilian
HbVar.785 ethnic Greek
HbVar.785 ethnic Greek Cypriot
HbVar.785 ethnic Turkish
HbVar.785 ethnic Macedonian
HbVar.785 ethnic Croatian
HbVar.785 ethnic Bulgarian
HbVar.785 ethnic Azerbaijan
HbVar.785 ethnic Russian
HbVar.785 ethnic Spanish
HbVar.785 ethnic Syria
HbVar.785 phenoCommon beta0 thalassemia
HbVar.786 protEffect HBB 10(+G); modified C-terminal sequence: (10)Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH
HbVar.786 commonName Codons 8/9 (+G); AAG TCT(Lys;Ser)->AAG G TCT beta0
HbVar.786 ethnic Lebanese
HbVar.786 ethnic Saudi Arabian
HbVar.786 ethnic Kuwaiti
HbVar.786 ethnic United Arab Emirates
HbVar.786 ethnic Egyptian
HbVar.786 ethnic Greek
HbVar.786 ethnic Turkish
HbVar.786 ethnic Bulgarian
HbVar.786 ethnic Azerbaijan
HbVar.786 ethnic Spanish
HbVar.786 ethnic Iranian
HbVar.786 ethnic Pakistani
HbVar.786 ethnic Punjabi
HbVar.786 ethnic Bangladesh
HbVar.786 ethnic Pathan
HbVar.786 ethnic Thai
HbVar.786 ethnic Singapore
HbVar.786 ethnic Japanese
HbVar.786 ethnic Syria
HbVar.786 ethnic Bahrein
HbVar.786 phenoCommon beta0 thalassemia
HbVar.787 protEffect HBB 11(+T); modified C-terminal sequence: (11)Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH
HbVar.787 commonName Codons 9/10 (+T); TCT GCC(Ser;Ala)->TCT T GCC beta0
HbVar.787 ethnic Greek
HbVar.787 phenoCommon beta0 thalassemia
HbVar.788 protEffect HBB 11(A7) Ala>Ala
HbVar.788 commonName Codon 10 (C->A); GCC(Ala)->GCA(Ala) beta+
HbVar.788 ethnic Indian
HbVar.788 phenoCommon beta+ thalassemia
HbVar.789 protEffect HBB 12 (-T); modified C-terminal sequence: (12)Val-Leu-Pro-Cys-Gly-Ala-(18)Arg-COOH
HbVar.789 commonName Codon 11 (-T); GTT(Val)->GT- beta0
HbVar.789 ethnic Spanish
HbVar.789 ethnic Mexican
HbVar.789 phenoCommon beta0 thalassemia
HbVar.790 protEffect HBB 16(+G); modified C-terminal sequence: (16)Val-Gly-Gln-Gly-Glu- Arg-(22)Gly-COOH
HbVar.790 commonName Codons 14/15 (+G); CTG TGG(Leu;Trp)->CTG G TGG beta0
HbVar.790 ethnic Thai
HbVar.790 ethnic Chinese
HbVar.790 phenoCommon beta0 thalassemia
HbVar.791 protEffect HBB 16(A12) Trp>Stop
HbVar.791 commonName Codon 15 (G->A); TGG(Trp)->TAG(stop codon) beta0
HbVar.791 ethnic Israel
HbVar.791 ethnic United Arab Emirates
HbVar.791 ethnic Oman
HbVar.791 ethnic Turkish
HbVar.791 ethnic Pakistani
HbVar.791 ethnic Punjabi
HbVar.791 ethnic Maharashtran
HbVar.791 ethnic Bangladesh
HbVar.791 ethnic Pathan
HbVar.791 ethnic Thai
HbVar.791 ethnic Indonesian
HbVar.791 ethnic Japanese
HbVar.791 ethnic Syria
HbVar.791 ethnic Bahrein
HbVar.791 phenoCommon beta0 thalassemia
HbVar.792 protEffect HBB 105(G6) Arg>Trp
HbVar.792 commonName Hb Sainte Eugenie
HbVar.792 ethnic French
HbVar.792 phenoCommon Hemoglobin variant
HbVar.793 protEffect HBB 16(A12) Trp>Stop
HbVar.793 commonName Codon 15 (G->A); TGG(Trp)->TGA(stop codon) beta0
HbVar.793 ethnic Portuguese
HbVar.793 ethnic Russian
HbVar.793 ethnic Japanese
HbVar.793 phenoCommon beta0 thalassemia
HbVar.793 phenoCommon severe Anemia
HbVar.794 protEffect HBB 119(GH1) Phe>Cys
HbVar.794 commonName Hb Harrow
HbVar.794 ethnic Indian
HbVar.794 phenoCommon Hemoglobin variant
HbVar.795 protEffect HBB 37(C2) Pro>Ala
HbVar.795 commonName Hb Brie Comte Robert
HbVar.795 ethnic French
HbVar.795 phenoCommon Hemoglobin variant
HbVar.796 protEffect HBA1 56(E4) Val>Leu
HbVar.796 commonName Hb Roubaix
HbVar.796 alias Hb Poland
HbVar.796 ethnic French Caucasian
HbVar.796 ethnic Polish
HbVar.796 phenoCommon Hemoglobin variant
HbVar.797 protEffect HBB 122(GH 5) Phe>Leu
HbVar.797 commonName Hb Bushey
HbVar.797 ethnic Chinese
HbVar.797 phenoCommon Hemoglobin variant
HbVar.798 protEffect HBB 16 (-T); modified C-terminal sequence: (16)Gly-Ala-(18)Arg-COOH
HbVar.798 commonName Codon 15 (-T); TGG(Trp)->-GG beta0
HbVar.798 ethnic Malay
HbVar.798 phenoCommon beta0 thalassemia
HbVar.799 protEffect HBB 17 (-C); modified C-terminal sequence: (17)Gly-(18)Arg-COOH
HbVar.799 commonName Codon 16 (-C); GGC(Gly)->GG- beta0
HbVar.799 ethnic Azerbaijan
HbVar.799 ethnic Pakistani
HbVar.799 ethnic Punjabi
HbVar.799 ethnic Pathan
HbVar.799 ethnic Singapore
HbVar.799 phenoCommon beta0 thalassemia
HbVar.800 protEffect HBB 18(A14) Lys>Stop
HbVar.800 commonName Codon 17 (A->T); AAG(Lys)->TAG(stop codon) beta0
HbVar.800 ethnic Thai
HbVar.800 ethnic Malaysian
HbVar.800 ethnic Singapore
HbVar.800 ethnic Indonesian
HbVar.800 ethnic Taiwanese
HbVar.800 ethnic Chinese
HbVar.800 ethnic Japanese
HbVar.800 ethnic Korean
HbVar.800 phenoCommon beta0 thalassemia
HbVar.802 protEffect HBB 23(B4) Glu>Stop
HbVar.802 commonName Codon 22 (G->T); GAA(Glu)->TAA(stop codon) beta0
HbVar.802 ethnic Reunion Island
HbVar.802 phenoCommon beta0 thalassemia
HbVar.803 protEffect HBB 22 - 25 (-AAGTTGG); modified C-terminal sequence
HbVar.803 commonName Codons 22/23/24 (GAA GTT GGT; Glu Val Gly); deletion of -AAGTTGG beta0
HbVar.803 ethnic Turk
HbVar.803 phenoCommon beta0 thalassemia
HbVar.804 protEffect HBB 25 (-G); modified C-terminal sequence AND His- inserted between codons 24(B5) and 25(B6) of HBB
HbVar.804 commonName Codon 24; GGT(Gly); (-G; +CAC) beta0
HbVar.804 ethnic Egyptian
HbVar.804 phenoCommon beta0 thalassemia
HbVar.805 protEffect HBB 25(B6) Gly>Gly
HbVar.805 commonName Codon 24 (T->A); GGT(Gly)->GGA(Gly) beta+
HbVar.805 ethnic Japanese
HbVar.805 ethnic Black
HbVar.805 phenoCommon beta+ thalassemia
HbVar.807 protEffect HBB 27(+T); modified C-terminal sequence: (27)stop codon
HbVar.807 commonName Codons 25/26 (+T); GGT GAG(Gly-Glu)->GGT T GAG(Gly-Term) beta0
HbVar.807 ethnic Tunisian
HbVar.807 phenoCommon beta0 thalassemia
HbVar.808 protEffect HBB 27(B8) Glu>Stop
HbVar.808 commonName Codon 26 (G->T); GAG(Glu)->TAG(stop codon) beta0
HbVar.808 ethnic Thai
HbVar.808 phenoCommon beta0 thalassemia
HbVar.809 protEffect HBB 27(+T); modified C-terminal sequence: (27)Val-Gly-Pro-Gly-Gln-Ala-Ala-Gly-Gly-Leu-
Pro-Leu-Asp-Pro-Glu-Val-Leu-(43)COOH
HbVar.809 commonName Codon 26 (+T); GAG(Glu)->GTAG beta0
HbVar.809 ethnic Japanese
HbVar.809 phenoCommon beta0 thalassemia
HbVar.810 protEffect HBB 29(+C); modified C-terminal sequence
HbVar.810 commonName Codons 27/28 (+C); GCC CTG(Ala Ser)->GCC C CTG beta0
HbVar.810 ethnic Thai
HbVar.810 ethnic Singapore
HbVar.810 ethnic Taiwanese
HbVar.810 ethnic Chinese
HbVar.810 phenoCommon beta0 thalassemia
HbVar.811 protEffect HBB 29 (-C); modified C-terminal sequence
HbVar.811 commonName Codon 28 (-C); CTG(Leu)->-TG beta0
HbVar.811 ethnic Egyptian
HbVar.811 phenoCommon beta0 thalassemia
HbVar.812 protEffect HBB 122(GH 5) Phe>Leu AND HBB 66(E9) Lys>Met
HbVar.812 commonName Hb Casablanca
HbVar.812 ethnic Moroccan
HbVar.812 phenoCommon Hemoglobin variant
HbVar.813 protEffect HBB 30 (-G); modified C-terminal sequence
HbVar.813 commonName Codons 28/29 (-G); CTG GGC(Leu Gly)->CTG -GC beta0
HbVar.813 ethnic Japanese
HbVar.813 ethnic Egyptian
HbVar.813 phenoCommon beta0 thalassemia
HbVar.814 protEffect HBB 30(B11) Gly>Gly
HbVar.814 commonName IVS-I (-3) or codon 29 (C->T); GGC(Gly)->GGT(Gly) beta+
HbVar.814 ethnic Lebanese
HbVar.814 phenoCommon beta+ thalassemia
HbVar.815 protEffect HBB 31(B12) Arg>Gly
HbVar.815 commonName IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT Probably beta0
HbVar.815 ethnic Sephardic Jewish
HbVar.815 phenoCommon beta0 thalassemia
HbVar.816 protEffect HBB 31(B12) Arg>Lys
HbVar.816 commonName IVS-I (-1) or codon 30 (G->A) AG^GTTGGT->AA^GTTGGT beta0
HbVar.816 ethnic Oman
HbVar.816 ethnic Tunisian
HbVar.816 ethnic Algerian
HbVar.816 ethnic Pakistani
HbVar.816 ethnic Pathan
HbVar.816 ethnic Bulgarian
HbVar.816 phenoCommon beta0 thalassemia
HbVar.817 commonName IVS-I-1 (G->A); AG^GTTGGT->AGATTGGT beta0
HbVar.817 ethnic Lebanese
HbVar.817 ethnic Jordan
HbVar.817 ethnic Israel
HbVar.817 ethnic Kuwaiti
HbVar.817 ethnic Oman
HbVar.817 ethnic Egyptian
HbVar.817 ethnic Tunisian
HbVar.817 ethnic Algerian
HbVar.817 ethnic Italian
HbVar.817 ethnic Sardinian
HbVar.817 ethnic Sicilian
HbVar.817 ethnic Greek
HbVar.817 ethnic Greek Cypriot
HbVar.817 ethnic Turkish
HbVar.817 ethnic Macedonian
HbVar.817 ethnic Croatian
HbVar.817 ethnic Bulgarian
HbVar.817 ethnic Hungarian
HbVar.817 ethnic Czechoslovakian
HbVar.817 ethnic Azerbaijan
HbVar.817 ethnic Russian
HbVar.817 ethnic English
HbVar.817 ethnic French
HbVar.817 ethnic Portuguese
HbVar.817 ethnic Spanish
HbVar.817 ethnic Iranian
HbVar.817 ethnic Pakistani
HbVar.817 ethnic Maharashtran
HbVar.817 ethnic Thai
HbVar.817 ethnic Indonesian
HbVar.817 ethnic Syria
HbVar.817 ethnic Bahrein
HbVar.817 ethnic Turkish Cypriots
HbVar.817 ethnic Albania
HbVar.817 ethnic Serbian
HbVar.817 phenoCommon beta0 thalassemia
HbVar.818 commonName IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT beta0
HbVar.818 ethnic Pakistani
HbVar.818 ethnic Punjabi
HbVar.818 ethnic Maharashtran
HbVar.818 ethnic Pathan
HbVar.818 ethnic Thai
HbVar.818 ethnic Malaysian
HbVar.818 ethnic Singapore
HbVar.818 ethnic Indonesian
HbVar.818 ethnic Taiwanese
HbVar.818 ethnic Chinese
HbVar.818 ethnic Japanese
HbVar.818 ethnic Argentine
HbVar.818 phenoCommon beta0 thalassemia
HbVar.819 commonName IVS-I-2 (T->A); AG^GTTGGT->AGGATGGT beta0
HbVar.819 ethnic Tunisian
HbVar.819 ethnic Algerian
HbVar.819 ethnic Italian
HbVar.819 ethnic Sicilian
HbVar.819 phenoCommon beta0 thalassemia
HbVar.820 commonName IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT beta0
HbVar.820 ethnic Algerian
HbVar.820 ethnic Russian
HbVar.820 ethnic Black
HbVar.820 phenoCommon beta0 thalassemia
HbVar.821 commonName IVS-I-2 (T->G); AG^GTTGGT->AGGGTGGT beta0
HbVar.821 ethnic Tunisian
HbVar.821 phenoCommon beta0 thalassemia
HbVar.822 commonName IVS-I-5 (G->A) beta+ (severe)
HbVar.822 ethnic Tunisian
HbVar.822 ethnic Algerian
HbVar.822 ethnic Italian
HbVar.822 ethnic Greek
HbVar.822 ethnic Turkish
HbVar.822 ethnic Spanish
HbVar.822 phenoCommon beta+ thalassemia
HbVar.823 commonName IVS-I-5 (G->A) plus the Corfu deletion (deltabeta-thal) beta+
HbVar.823 ethnic Greek
HbVar.823 phenoCommon beta+ thalassemia
HbVar.824 commonName IVS-I-5 (G->C) beta+ (severe)
HbVar.824 ethnic Lebanese
HbVar.824 ethnic Jordan
HbVar.824 ethnic Israel
HbVar.824 ethnic Saudi Arabian
HbVar.824 ethnic Kuwaiti
HbVar.824 ethnic United Arab Emirates
HbVar.824 ethnic Oman
HbVar.824 ethnic Algerian
HbVar.824 ethnic Italian
HbVar.824 ethnic Sicilian
HbVar.824 ethnic Turkish
HbVar.824 ethnic Azerbaijan
HbVar.824 ethnic Iranian
HbVar.824 ethnic Pakistani
HbVar.824 ethnic Punjabi
HbVar.824 ethnic Maharashtran
HbVar.824 ethnic Bangladesh
HbVar.824 ethnic Pathan
HbVar.824 ethnic Thai
HbVar.824 ethnic Malaysian
HbVar.824 ethnic Singapore
HbVar.824 ethnic Indonesian
HbVar.824 ethnic Chinese
HbVar.824 ethnic Bahrein
HbVar.824 ethnic Albania
HbVar.824 phenoCommon beta+ thalassemia
HbVar.825 commonName IVS-I-5 (G->T) beta+ (severe)
HbVar.825 ethnic Turkish
HbVar.825 ethnic Azerbaijan
HbVar.825 ethnic Black
HbVar.825 ethnic Mediterranean
HbVar.825 ethnic Northern European
HbVar.825 phenoCommon beta+ thalassemia
HbVar.826 commonName IVS-I-6 (T->C); the Portuguese type beta+
HbVar.826 ethnic Lebanese
HbVar.826 ethnic Jordan
HbVar.826 ethnic Israel
HbVar.826 ethnic Kuwaiti
HbVar.826 ethnic United Arab Emirates
HbVar.826 ethnic Egyptian
HbVar.826 ethnic Tunisian
HbVar.826 ethnic Algerian
HbVar.826 ethnic Italian
HbVar.826 ethnic Sardinian
HbVar.826 ethnic Sicilian
HbVar.826 ethnic Greek
HbVar.826 ethnic Greek Cypriot
HbVar.826 ethnic Turkish
HbVar.826 ethnic Macedonian
HbVar.826 ethnic Croatian
HbVar.826 ethnic Bulgarian
HbVar.826 ethnic Hungarian
HbVar.826 ethnic Azerbaijan
HbVar.826 ethnic Russian
HbVar.826 ethnic English
HbVar.826 ethnic French
HbVar.826 ethnic Portuguese
HbVar.826 ethnic Spanish
HbVar.826 ethnic Iranian
HbVar.826 ethnic Argentine
HbVar.826 ethnic Syria
HbVar.826 ethnic Turkish Cypriots
HbVar.826 ethnic Albania
HbVar.826 ethnic Serbian
HbVar.826 phenoCommon beta+ thalassemia
HbVar.827 commonName IVS-I-110 (G->A) beta+; the mutation is 21 nucleotides 5' to the acceptor splice site AG^GC
HbVar.827 ethnic Lebanese
HbVar.827 ethnic Jordan
HbVar.827 ethnic Israel
HbVar.827 ethnic Saudi Arabian
HbVar.827 ethnic United Arab Emirates
HbVar.827 ethnic Oman
HbVar.827 ethnic Egyptian
HbVar.827 ethnic Tunisian
HbVar.827 ethnic Algerian
HbVar.827 ethnic Italian
HbVar.827 ethnic Sardinian
HbVar.827 ethnic Sicilian
HbVar.827 ethnic Greek
HbVar.827 ethnic Greek Cypriot
HbVar.827 ethnic Turkish
HbVar.827 ethnic Macedonian
HbVar.827 ethnic Croatian
HbVar.827 ethnic Bulgarian
HbVar.827 ethnic Czechoslovakian
HbVar.827 ethnic Azerbaijan
HbVar.827 ethnic Russian
HbVar.827 ethnic English
HbVar.827 ethnic French
HbVar.827 ethnic Portuguese
HbVar.827 ethnic Spanish
HbVar.827 ethnic Iranian
HbVar.827 ethnic Yemenite
HbVar.827 ethnic Argentine
HbVar.827 ethnic Syria
HbVar.827 ethnic Bahrein
HbVar.827 ethnic Turkish Cypriots
HbVar.827 ethnic Albania
HbVar.827 ethnic Serbian
HbVar.827 phenoCommon beta+ thalassemia
HbVar.828 commonName IVS-I-116 (T->G) beta0; normal mRNA estimated at less than 1.0%
HbVar.828 ethnic Italian
HbVar.828 ethnic Sicilian
HbVar.828 ethnic Turkish
HbVar.828 ethnic Syria
HbVar.828 phenoCommon beta0 thalassemia
HbVar.829 commonName IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG beta+
HbVar.829 ethnic Azerbaijan
HbVar.829 ethnic Punjabi
HbVar.829 ethnic Taiwanese
HbVar.829 ethnic Chinese
HbVar.829 ethnic Saudi Arabian
HbVar.829 phenoCommon beta+ thalassemia
HbVar.830 commonName IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG beta0
HbVar.830 ethnic Korean
HbVar.830 ethnic Egyptian
HbVar.830 ethnic Turk
HbVar.830 phenoCommon beta0 thalassemia
HbVar.831 commonName IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG beta0
HbVar.831 ethnic Italian
HbVar.831 ethnic Sicilian
HbVar.831 ethnic Turkish
HbVar.831 ethnic Russian
HbVar.831 ethnic Portuguese
HbVar.831 ethnic Japanese
HbVar.831 ethnic Korean
HbVar.831 phenoCommon beta0 thalassemia
HbVar.832 protEffect HBA2 27(B7) Ala>Val
HbVar.832 commonName Hb Campinas
HbVar.832 ethnic Brazilian
HbVar.832 phenoCommon Hemoglobin variant
HbVar.833 protEffect HBB 31(B12) Arg>Ser
HbVar.833 commonName Codon 30 (AGG->AGC) [IVS-I-130 (+1)] beta0
HbVar.833 ethnic Lebanese
HbVar.833 ethnic United Arab Emirates
HbVar.833 ethnic Italian
HbVar.833 ethnic Sicilian
HbVar.833 ethnic Bulgarian
HbVar.833 ethnic Azerbaijan
HbVar.833 ethnic Iranian
HbVar.833 ethnic Pakistani
HbVar.833 ethnic Punjabi
HbVar.833 ethnic Maharashtran
HbVar.833 ethnic Pathan
HbVar.833 ethnic Indonesian
HbVar.833 ethnic Black
HbVar.833 phenoCommon beta0 thalassemia
HbVar.834 commonName IVS-I, 3' end; -17 bp beta0
HbVar.834 ethnic Kuwaiti
HbVar.834 phenoCommon beta0 thalassemia
HbVar.835 protEffect HBB 32 (-C); modified C-terminal sequence: (32)Cys-Trp-Trp-Ser-Thr-Leu-Gly-Pro-Arg-Gly- Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.835 commonName Codon 31 (-C); CTG->-TG beta0
HbVar.835 ethnic Chinese
HbVar.835 phenoCommon beta0 thalassemia
HbVar.836 protEffect Arg- inserted between codons 31(B12) and 32(B13) of HBB
HbVar.836 commonName Codons 31/32 (+CGG) beta0 (dominant beta0-thal)
HbVar.836 ethnic Spanish
HbVar.836 phenoCommon beta0 thalassemia
HbVar.837 protEffect HBB 34(B15) Val->0
HbVar.837 commonName Codons 33/34 (-GTG); GTG GTC(Val*Val)->GTC - - -(Val) beta0
HbVar.837 ethnic Korean
HbVar.837 phenoCommon beta0 thalassemia
HbVar.838 protEffect HBB 36(C1) Tyr>Stop
HbVar.838 commonName Codon 35 (C->A); TAC->TAA (Tyr->Term codon) beta0
HbVar.838 ethnic Thai
HbVar.838 ethnic Japanese
HbVar.838 phenoCommon beta0 thalassemia
HbVar.839 protEffect HBB 36 (-C); modified C-terminal sequence: (36)Tyr-Leu-Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro- Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.839 commonName Codon 35 (-C); TAC(Tyr)->TA- beta0
HbVar.839 ethnic Italian
HbVar.839 ethnic Singapore
HbVar.839 ethnic Indonesian
HbVar.839 ethnic Bahrein
HbVar.839 ethnic Malay
HbVar.839 phenoCommon beta0 thalassemia
HbVar.840 protEffect HBB 38 (-T); modified C-terminal sequence: (38)Gly-Pro-Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly- Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala- Thr-Leu-(60)Arg-COOH
HbVar.840 commonName Codons 36/37 (-T); CCT TGG(Pro-Trp)->CCT -GG beta0
HbVar.840 ethnic United Arab Emirates
HbVar.840 ethnic Oman
HbVar.840 ethnic Bulgarian
HbVar.840 ethnic Azerbaijan
HbVar.840 ethnic Iranian
HbVar.840 phenoCommon beta0 thalassemia
HbVar.841 protEffect HBB 38(C3) Trp>Stop
HbVar.841 commonName Codon 37 (G->A); TGG(Trp)->TGA(stop codon) beta0
HbVar.841 ethnic Jordan
HbVar.841 ethnic Israel
HbVar.841 ethnic United Arab Emirates
HbVar.841 ethnic Egyptian
HbVar.841 ethnic Croatian
HbVar.841 ethnic Syria
HbVar.841 ethnic Albania
HbVar.841 phenoCommon beta0 thalassemia
HbVar.842 commonName Codons 37/38/39 (-7 nts) beta0
HbVar.842 ethnic Turk
HbVar.842 phenoCommon beta0 thalassemia
HbVar.843 protEffect HBB 40 (-C); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys- Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu- (60)Arg-COOH
HbVar.843 commonName Codons 38/39 (-C); ACC CAG(Thr Gln)->ACC -AG beta0
HbVar.843 ethnic Czechoslovakian
HbVar.843 phenoCommon beta0 thalassemia
HbVar.844 protEffect HBB 39 (-CC); modified C-terminal sequence: (39)Thr-Glu-Val-(42)Leu-COOH
HbVar.844 commonName Codons 38/39 (-CC); ACC CAG(Thr-Glu)->A- - CAG beta0
HbVar.844 ethnic Belgian
HbVar.844 phenoCommon beta0 thalassemia
HbVar.845 protEffect HBB 40(C5) Gln>Stop
HbVar.845 commonName Codon 39 (C->T); CAG(Gln)->TAG(stop codon) beta0
HbVar.845 ethnic Lebanese
HbVar.845 ethnic Jordan
HbVar.845 ethnic Israel
HbVar.845 ethnic Saudi Arabian
HbVar.845 ethnic Kuwaiti
HbVar.845 ethnic United Arab Emirates
HbVar.845 ethnic Oman
HbVar.845 ethnic Egyptian
HbVar.845 ethnic Tunisian
HbVar.845 ethnic Algerian
HbVar.845 ethnic Italian
HbVar.845 ethnic Sardinian
HbVar.845 ethnic Sicilian
HbVar.845 ethnic Greek
HbVar.845 ethnic Greek Cypriot
HbVar.845 ethnic Turkish
HbVar.845 ethnic Macedonian
HbVar.845 ethnic Croatian
HbVar.845 ethnic Bulgarian
HbVar.845 ethnic Hungarian
HbVar.845 ethnic Czechoslovakian
HbVar.845 ethnic Azerbaijan
HbVar.845 ethnic English
HbVar.845 ethnic French
HbVar.845 ethnic Portuguese
HbVar.845 ethnic Spanish
HbVar.845 ethnic Iranian
HbVar.845 ethnic Pakistani
HbVar.845 ethnic Pathan
HbVar.845 ethnic Japanese
HbVar.845 ethnic Argentine
HbVar.845 ethnic Syria
HbVar.845 ethnic Bahrein
HbVar.845 ethnic Turkish Cypriots
HbVar.845 ethnic Albania
HbVar.845 ethnic Serbian
HbVar.845 phenoCommon beta0 thalassemia
HbVar.846 protEffect HBB 41 (-G); modified C-terminal sequence: (41)Ser-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro- Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.846 commonName Codon 40 (-G); AGG(Arg)->AG- beta0
HbVar.846 ethnic Japanese
HbVar.846 phenoCommon beta0 thalassemia
HbVar.847 protEffect HBB 42(+T); modified C-terminal sequence: (42)Phe-(43)Leu-COOH
HbVar.847 commonName Codons 40/41 (+T); AGG TTC(Arg-Phe)->AGG T TTC beta0
HbVar.847 ethnic Chinese
HbVar.847 phenoCommon beta0 thalassemia
HbVar.848 protEffect HBB 42 (-C); modified C-terminal sequence: (42)Phe-Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu- Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.848 commonName Codon 41 (-C); TTC(Phe)->TT- beta0
HbVar.848 ethnic Thai
HbVar.848 phenoCommon beta0 thalassemia
HbVar.849 protEffect HBB 41 - 43 (-TTCT); modified C-terminal sequence
HbVar.849 commonName Codons 41/42 (-TTCT); TTCTTT(Phe-Phe)->- - - -TT beta0
HbVar.849 ethnic English
HbVar.849 ethnic Pakistani
HbVar.849 ethnic Punjabi
HbVar.849 ethnic Thai
HbVar.849 ethnic Malaysian
HbVar.849 ethnic Singapore
HbVar.849 ethnic Indonesian
HbVar.849 ethnic Taiwanese
HbVar.849 ethnic Chinese
HbVar.849 ethnic Japanese
HbVar.849 ethnic Korean
HbVar.849 phenoCommon beta0 thalassemia
HbVar.850 protEffect HBB 44(+G); modified C-terminal sequence: (44)Gly-Val-Leu-Trp-Gly-Ser-Val- His-(52)Ser-COOH
HbVar.850 commonName Codons 42/43 (+G); TTT GAG(Phe Glu)->TTT G GAG beta0
HbVar.850 ethnic Japanese
HbVar.850 phenoCommon beta0 thalassemia
HbVar.851 protEffect HBB 44(+T); modified C-terminal sequence: (44)stop codon
HbVar.851 commonName Codons 42/43 (+T) TTT GAG(Phe Glu)->TTT TGA G(Phe;stop codon) beta0
HbVar.851 ethnic Japanese
HbVar.851 phenoCommon beta0 thalassemia
HbVar.852 protEffect HBG2 20(B1) Asn>Lys
HbVar.852 commonName Hb F-Ouled Rabah
HbVar.852 ethnic Algerian
HbVar.852 ethnic Moroccan
HbVar.852 phenoCommon Hemoglobin variant
HbVar.853 protEffect HBB 44(CD2) Glu>Stop
HbVar.853 commonName Codon 43 (G->T); GAG(Glu)->TAG (stop codon) beta0
HbVar.853 ethnic Thai
HbVar.853 ethnic Singapore
HbVar.853 ethnic Chinese
HbVar.853 phenoCommon beta0 thalassemia
HbVar.854 protEffect HBB 45 (-C); modified C-terminal sequence: (45)Ser-Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu- Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.854 commonName Codon 44 (-C); TCC(Ser)->TC- beta0
HbVar.854 ethnic Lebanese
HbVar.854 ethnic Kuwaiti
HbVar.854 ethnic United Arab Emirates
HbVar.854 ethnic Oman
HbVar.854 ethnic Tunisian
HbVar.854 ethnic Italian
HbVar.854 ethnic Bulgarian
HbVar.854 ethnic Azerbaijan
HbVar.854 ethnic Iranian
HbVar.854 ethnic Bahrein
HbVar.854 ethnic Albania
HbVar.854 phenoCommon beta0 thalassemia
HbVar.855 protEffect HBB 46 (-T); modified C-terminal sequence: (46)Leu-Gly-Ile-Cys-Pro-Leu-Leu-Met-Leu-Leu- Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.855 commonName Codon 45 (-T); TTT(Phe)->-TT beta0
HbVar.855 ethnic Pakistani
HbVar.855 phenoCommon beta0 thalassemia
HbVar.856 protEffect HBB 48(+A); modified C-terminal sequence: (48)Glu-Ser-Val- His-(52)Ser-COOH
HbVar.856 commonName Codon 47 (+A); GAT(Asp)->GAA(Glu) T beta0
HbVar.856 ethnic Surinam
HbVar.856 phenoCommon beta0 thalassemia
HbVar.857 protEffect HBB 49(+ATCT); modified C-terminal sequence: (49)Leu-Ser-Val-His-(53)Ser-COOH
HbVar.857 commonName Codons 47/48 (+ATCT); GAT CTG(Asp Leu)->GAT CTATCTG beta0
HbVar.857 ethnic Pakistani
HbVar.857 ethnic Punjabi
HbVar.857 ethnic Maharashtran
HbVar.857 ethnic Sikh
HbVar.857 phenoCommon beta0 thalassemia
HbVar.858 protEffect HBB 52 (-C); modified C-terminal sequence: (52)Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.858 commonName Codon 51 (-C); CCT(Pro)->-CT beta0
HbVar.858 ethnic Hungarian
HbVar.858 phenoCommon beta0 thalassemia
HbVar.860 protEffect HBB 55(+G); modified C-terminal sequence: (55)Gly-Tyr-Gly-Gln-(59)Pro-COOH
HbVar.860 commonName 53/54 (+G); GCT GTT(Ala-Val)->GCT G GTT beta0
HbVar.860 ethnic Japanese
HbVar.860 phenoCommon beta0 thalassemia
HbVar.861 protEffect HBB 55 (-T); modified C-terminal sequence: (55)Val-Trp-Ala-Thr-Leu-(60)Arg-COOH
HbVar.861 commonName Codon 54 (-T); GTT(Val)->GT- beta0
HbVar.861 ethnic Algerian
HbVar.861 ethnic Swedish
HbVar.861 phenoCommon beta0 thalassemia
HbVar.862 protEffect HBB 56(+A); modified C-terminal sequence: (56)Asn-Gly-Gln-(59)Pro-COOH
HbVar.862 commonName Codons 54/55 (+A); GTT ATG(Val Met)->GTT A ATG beta0
HbVar.862 ethnic Maharashtran
HbVar.862 phenoCommon beta0 thalassemia
HbVar.863 commonName Codons 56/57/58/59/60 (GGC AAC CCT AAG GTG); duplication of 14 bp beta0
HbVar.863 phenoCommon beta0 thalassemia
HbVar.864 protEffect HBB 59(+C); modified C-terminal sequence: (59)Pro-COOH
HbVar.864 commonName Codons 57/58 (+C); AAC CCT(Asn Pro)->AAC C CCT beta0
HbVar.864 ethnic Sikh
HbVar.864 phenoCommon beta0 thalassemia
HbVar.865 protEffect HBB 60 (-A); modified C-terminal sequence: (60)Arg-COOH
HbVar.865 commonName Codon 59 (-A); AAG(Lys)->-AG beta0
HbVar.865 ethnic Italian
HbVar.865 phenoCommon beta0 thalassemia
HbVar.866 protEffect HBB 62(E5) Lys>Stop
HbVar.866 commonName Codon 61 (A->T); AAG(Lys)->TAG(stop codon) beta0
HbVar.866 ethnic Black
HbVar.866 phenoCommon beta0 thalassemia
HbVar.867 protEffect HBB 65 (-G); modified C-terminal sequence: (65)Ala-Arg-Lys-Cys-Ser-Val-Pro-Leu-Val-Met- Ala-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH
HbVar.867 commonName Codon 64 (-G); GGC(Gly)->-GC beta0
HbVar.867 ethnic Swiss
HbVar.867 phenoCommon beta0 thalassemia
HbVar.868 protEffect HBB 68 (-GT); modified C-terminal sequence: (68)Ala-Arg-Cys-(71)Leu-COOH
HbVar.868 commonName Codon 67 (-TG); GTG(Val)->--G beta0
HbVar.868 ethnic Filipino
HbVar.868 phenoCommon beta0 thalassemia
HbVar.869 protEffect HBB 73(+A); modified C-terminal sequence: (73)Lys-COOH
HbVar.869 commonName Codons 71/72 (+A); TTT AGT(Phe Ser)->TTT A AGT; beta0
HbVar.869 ethnic Chinese
HbVar.869 ethnic East Asian
HbVar.869 phenoCommon beta0 thalassemia
HbVar.870 protEffect HBB 73(+T); modified C-terminal sequence: (73)stop codon
HbVar.870 commonName Codons 71/72 (+T); TTT AGT(Phe Ser)->TTT T AGT beta0
HbVar.870 ethnic Thai
HbVar.870 ethnic Malaysian
HbVar.870 ethnic Taiwanese
HbVar.870 ethnic Chinese
HbVar.870 phenoCommon beta0 thalassemia
HbVar.871 protEffect HBB 72 - 74 (-AGTGA); modified C-terminal sequence AND HBB 73(+T); modified C-terminal sequence
HbVar.871 commonName Codons 72/73; -AGTGA, +T; AGT GAT(Ser-Asp)->---- TT beta0
HbVar.871 ethnic British
HbVar.871 phenoCommon beta0 thalassemia
HbVar.872 protEffect HBG2 18(A14) Lys>Asn
HbVar.872 commonName Hb F-Clamart
HbVar.872 ethnic French
HbVar.872 phenoCommon Hemoglobin variant
HbVar.873 protEffect HBB 75 (-C); modified C-terminal sequence: (75)Gly-Trp-Leu-Thr-Trp-Thr-Thr-Ser-Arg-Ala- Pro-Leu-Pro-(88)His-COOH
HbVar.873 commonName Codons 74/75 (-C); GGC CTG(Gly Leu)->GG- CTG beta0
HbVar.873 ethnic Turk
HbVar.873 phenoCommon beta0 thalassemia
HbVar.873 phenoCommon severe Anemia
HbVar.874 protEffect HBB 77 (-C); modified C-terminal sequence: (77)Val-Thr-Trp-Thr-Thr-Ser-Arg-Ala-Pro-Leu- Pro-(88)His-COOH
HbVar.874 commonName Codon 76 (-C); GCT(Ala)->G-T beta0
HbVar.874 ethnic Italian
HbVar.874 ethnic Sardinian
HbVar.874 ethnic Sicilian
HbVar.874 phenoCommon beta0 thalassemia
HbVar.875 protEffect HBB 84 (-G); modified C-terminal sequence: (84)Ala-Pro-Leu-Pro-(88)His-COOH
HbVar.875 commonName Codons 82/83 (-G); AAG GGC(Lys Gly)->AAG -GC beta0
HbVar.875 ethnic United Arab Emirates
HbVar.875 ethnic Croatian
HbVar.875 ethnic Czechoslovakian
HbVar.875 ethnic Azerbaijan
HbVar.875 phenoCommon beta0 thalassemia
HbVar.876 protEffect HBB 86(+C); modified C-terminal sequence: (86)Leu-Cys-His-Thr-(90)Glu-COOH
HbVar.876 commonName Codons 84/85 (+C); ACC TTT(Thr Phe)->ACC C TTT beta0
HbVar.876 ethnic Japanese
HbVar.876 phenoCommon beta0 thalassemia
HbVar.877 protEffect HBB 87(+T); modified C-terminal sequence: (87)Cys-His-Thr-(90)Glu-COOH
HbVar.877 commonName Codons 84/85/86 (+T); ACC TTT GCC(Thr Phe Ala)->ACC TTT T GCC beta0
HbVar.877 ethnic Japanese
HbVar.877 phenoCommon beta0 thalassemia
HbVar.878 protEffect HBB 89(+T); modified C-terminal sequence: (89)Leu-(90)Glu-COOH
HbVar.878 commonName Codon 88 (+T); CTG(Leu)->CTTG beta0
HbVar.878 ethnic Asian
HbVar.878 phenoCommon beta0 thalassemia
HbVar.879 protEffect HBB 90 (-GT); modified C-terminal sequence: (90)Arg-Ala-Ala-(93)Leu-COOH
HbVar.879 commonName Codons 89/90 (-GT); AGT GAG(Ser Glu)->A-- GAG beta0
HbVar.879 ethnic Korean
HbVar.879 phenoCommon beta0 thalassemia
HbVar.880 protEffect HBB 91(F6) Glu>Stop
HbVar.880 commonName Codon 90 (G->T); GAG(Glu)->TAG(stop codon) beta0
HbVar.880 ethnic Japanese
HbVar.880 phenoCommon beta0 thalassemia
HbVar.881 protEffect HBB 95(+TG); modified C-terminal sequence
HbVar.881 commonName Hb Agnana
HbVar.881 alias Codon 94 (+TG); GAC(Asp)->GTGAC Thalassemia intermedia
HbVar.881 ethnic Italian
HbVar.881 phenoCommon beta0 thalassemia
HbVar.882 protEffect HBB 96(+A); modified C-terminal sequence: (96)Lys-Ala-Ala-Arg-Gly-Ser-(101)COOH
HbVar.882 commonName Codon 95 (+A); AAG(Lys)->AAAG beta0
HbVar.882 ethnic Thai
HbVar.882 ethnic French
HbVar.882 phenoCommon beta0 thalassemia
HbVar.883 protEffect HBB 101(G2) Pro->0 AND HBB 101(+TCTGAGAACTT); modified C-terminal sequence
HbVar.883 commonName Codon 100; -CTT, +TCTGAGAACTT beta0 (dominant type)
HbVar.883 ethnic South African
HbVar.883 phenoCommon beta0 thalassemia
HbVar.884 commonName IVS-II-1 (G->A); beta0
HbVar.884 ethnic Lebanese
HbVar.884 ethnic Jordan
HbVar.884 ethnic Israel
HbVar.884 ethnic Saudi Arabian
HbVar.884 ethnic Kuwaiti
HbVar.884 ethnic United Arab Emirates
HbVar.884 ethnic Oman
HbVar.884 ethnic Egyptian
HbVar.884 ethnic Italian
HbVar.884 ethnic Sardinian
HbVar.884 ethnic Sicilian
HbVar.884 ethnic Greek
HbVar.884 ethnic Turkish
HbVar.884 ethnic Macedonian
HbVar.884 ethnic Croatian
HbVar.884 ethnic Bulgarian
HbVar.884 ethnic Hungarian
HbVar.884 ethnic Czechoslovakian
HbVar.884 ethnic Azerbaijan
HbVar.884 ethnic Russian
HbVar.884 ethnic French
HbVar.884 ethnic Yemenite
HbVar.884 ethnic Pakistani
HbVar.884 ethnic Punjabi
HbVar.884 ethnic Pathan
HbVar.884 ethnic Japanese
HbVar.884 ethnic Korean
HbVar.884 ethnic Black
HbVar.884 ethnic Argentine
HbVar.884 ethnic Syria
HbVar.884 ethnic Bahrein
HbVar.884 ethnic Albania
HbVar.884 ethnic Serbian
HbVar.884 ethnic Iranian
HbVar.884 phenoCommon beta0 thalassemia
HbVar.885 commonName IVS-II-1 (G->C); beta0
HbVar.885 ethnic Iranian
HbVar.885 phenoCommon beta0 thalassemia
HbVar.886 commonName IVS-II-2,3 (+11, -2); beta0
HbVar.886 ethnic Iranian
HbVar.886 phenoCommon beta0 thalassemia
HbVar.887 commonName IVS-II-4,5 (-AG); beta (0 or + unclear)
HbVar.887 ethnic Portuguese
HbVar.887 phenoCommon beta (0 or + unclear) thalassemia
HbVar.888 commonName IVS-II-5 (G->C) beta+ (severe)
HbVar.888 ethnic Chinese
HbVar.888 phenoCommon beta+ thalassemia
HbVar.889 commonName IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA beta+ (severe)
HbVar.889 ethnic Russian
HbVar.889 ethnic Thai
HbVar.889 ethnic Malaysian
HbVar.889 ethnic Singapore
HbVar.889 ethnic Indonesian
HbVar.889 ethnic Taiwanese
HbVar.889 ethnic Chinese
HbVar.889 ethnic Japanese
HbVar.889 phenoCommon beta+ thalassemia
HbVar.890 commonName IVS-II-705 (T->G); GATGTAAGA->GAG^GTAAGA beta+
HbVar.890 ethnic Mediterranean
HbVar.890 phenoCommon beta+ thalassemia
HbVar.891 commonName IVS-II-745 (C->G); CAGCTACCAT->CAG^GTACCAT beta+
HbVar.891 ethnic Lebanese
HbVar.891 ethnic Jordan
HbVar.891 ethnic Israel
HbVar.891 ethnic Egyptian
HbVar.891 ethnic Tunisian
HbVar.891 ethnic Algerian
HbVar.891 ethnic Italian
HbVar.891 ethnic Sardinian
HbVar.891 ethnic Sicilian
HbVar.891 ethnic Greek
HbVar.891 ethnic Greek Cypriot
HbVar.891 ethnic Turkish
HbVar.891 ethnic Macedonian
HbVar.891 ethnic Croatian
HbVar.891 ethnic Bulgarian
HbVar.891 ethnic Hungarian
HbVar.891 ethnic Czechoslovakian
HbVar.891 ethnic Azerbaijan
HbVar.891 ethnic French
HbVar.891 ethnic Portuguese
HbVar.891 ethnic Spanish
HbVar.891 ethnic Iranian
HbVar.891 ethnic Argentine
HbVar.891 ethnic Syria
HbVar.891 ethnic Turkish Cypriots
HbVar.891 ethnic Albania
HbVar.891 phenoCommon beta+ thalassemia
HbVar.892 protEffect HBG2 119(GH1) Phe>Leu
HbVar.892 commonName Hb F-Calabria
HbVar.892 ethnic Italian
HbVar.892 phenoCommon Hemoglobin variant
HbVar.893 protEffect HBB 85(EF8) Thr>Ala
HbVar.893 commonName Hb Saale
HbVar.893 ethnic German
HbVar.893 phenoCommon Hemoglobin variant
HbVar.894 protEffect HBA2 59(E7) His>Gln
HbVar.894 commonName Hb Boghe
HbVar.894 phenoCommon Hemoglobin variant
HbVar.895 commonName IVS-II-837 (T->G); beta+ or beta0
HbVar.895 ethnic Asian Indian
HbVar.895 phenoCommon beta (0 or + unclear) thalassemia
HbVar.896 protEffect HBA1 104(G10) His>Tyr
HbVar.896 commonName Hb Charolles
HbVar.896 ethnic Sardinian
HbVar.896 phenoCommon Hemoglobin variant
HbVar.897 commonName IVS-II-843 (T->G); beta+
HbVar.897 ethnic Algerian
HbVar.897 phenoCommon beta+ thalassemia
HbVar.898 commonName IVS-II-844 (C->G); beta+
HbVar.898 ethnic Italian
HbVar.898 phenoCommon beta+ thalassemia
HbVar.899 protEffect HBB 147(HC3) His>Tyr
HbVar.899 commonName Hb Bologna-St.Orsola
HbVar.899 alias Hb Hallamshire
HbVar.899 ethnic Anglo-Celtic
HbVar.899 ethnic Italian
HbVar.899 phenoCommon Hemoglobin variant
HbVar.900 protEffect HBA2 78(EF6) Pro>His
HbVar.900 commonName Hb Toulon
HbVar.900 ethnic French
HbVar.900 phenoCommon Hemoglobin variant
HbVar.901 commonName IVS-II-848 (C->A); beta+
HbVar.901 ethnic Jordan
HbVar.901 ethnic United Arab Emirates
HbVar.901 ethnic Egyptian
HbVar.901 ethnic Tunisian
HbVar.901 ethnic Algerian
HbVar.901 ethnic Greek
HbVar.901 ethnic Black
HbVar.901 phenoCommon beta+ thalassemia
HbVar.902 protEffect Ser-Asp-Leu- inserted between codons 87(F7) and 88(F8) of HBA1 or HBA2
HbVar.902 commonName Hb Neuilly-sur-Marne
HbVar.902 ethnic French
HbVar.902 phenoCommon Hemoglobin variant
HbVar.903 protEffect HBB 109(G10) Asn>Ile
HbVar.903 commonName Hb Schlierbach
HbVar.903 ethnic Chinese
HbVar.903 ethnic Swiss
HbVar.903 phenoCommon Hemoglobin variant
HbVar.904 protEffect HBB 140(H17) Asn>Thr
HbVar.904 commonName Hb Sagami
HbVar.904 ethnic Japanese
HbVar.904 phenoCommon Hemoglobin variant
HbVar.905 protEffect HBA1 38(C2) Pro->0
HbVar.905 commonName Hb Heraklion
HbVar.905 ethnic Cretan
HbVar.905 phenoCommon Thalassemia
HbVar.906 protEffect HBA1 63(E11) Val->0
HbVar.906 commonName Hb Aghia Sophia
HbVar.906 ethnic Greek
HbVar.906 phenoCommon Thalassemia
HbVar.907 protEffect HBB 34(B15) - 36(C1) Val-Val-Tyr->0 AND inserted Asp
HbVar.907 commonName Hb Dresden
HbVar.907 ethnic German
HbVar.907 phenoCommon Hemoglobin variant
HbVar.908 protEffect HBB 124(H1) Thr>Asn
HbVar.908 commonName Hb Ernz
HbVar.908 ethnic Italian
HbVar.908 phenoCommon Hemoglobin variant
HbVar.909 protEffect HBB 134(H11) Val>Ala
HbVar.909 commonName Hb Renert
HbVar.909 ethnic Jamaican
HbVar.909 phenoCommon Hemoglobin variant
HbVar.910 protEffect HBA1 or HBA2 21(B1) His>Pro
HbVar.910 commonName Hb Anderlecht
HbVar.910 ethnic Congolese
HbVar.910 phenoCommon Hemoglobin variant
HbVar.911 protEffect HBA2 21(B1) His>Asp
HbVar.911 commonName Hb Nikaia
HbVar.911 ethnic French Caucasian
HbVar.911 phenoCommon Hemoglobin variant
HbVar.912 protEffect HBA2 91(FG2) Lys>Arg
HbVar.912 commonName Hb Clinico-Madrid
HbVar.912 ethnic Spanish
HbVar.912 phenoCommon Hemoglobin variant
HbVar.913 protEffect HBB 2(NA1) Val>Gly
HbVar.913 commonName Hb Watford
HbVar.913 ethnic Ashkenazi Jews
HbVar.913 phenoCommon Hemoglobin variant
HbVar.914 protEffect HBA2 10(A7) Asn>Lys
HbVar.914 commonName Hb Park Ridge
HbVar.914 ethnic Caucasian
HbVar.914 phenoCommon Hemoglobin variant
HbVar.915 protEffect HBA1 or HBA2 47(CE4) Phe>Leu OR HBA2 or HBA2 47(CE4) Phe>Leu
HbVar.915 commonName Hb Rockaway
HbVar.915 ethnic African-American
HbVar.915 phenoCommon Hemoglobin variant
HbVar.916 protEffect HBA2 67(E15) Leu>Pro
HbVar.916 commonName Hb Dartmouth
HbVar.916 ethnic Irish
HbVar.916 ethnic Scottish
HbVar.916 phenoCommon Hemoglobin variant
HbVar.917 protEffect HBA2 73(EF1) His>Asp
HbVar.917 commonName Hb Norton
HbVar.917 ethnic Caucasian
HbVar.917 phenoCommon Hemoglobin variant
HbVar.918 protEffect HBA1 or HBA2 88(F8) His>Pro
HbVar.918 commonName Hb Grifton
HbVar.918 ethnic African-American
HbVar.918 phenoCommon Hemoglobin variant
HbVar.919 protEffect HBA1 90(FG1) His>Gln
HbVar.919 commonName Hb Buffalo
HbVar.919 alias Hb Reeuwijk
HbVar.919 ethnic Arabian
HbVar.919 phenoCommon Hemoglobin variant
HbVar.920 protEffect HBA1 96(G2) Pro>Gln
HbVar.920 commonName Hb Wichita
HbVar.920 phenoCommon Hemoglobin variant
HbVar.921 protEffect HBA2 104(G10) His>Tyr
HbVar.921 commonName Hb Lombard
HbVar.921 ethnic Italian
HbVar.921 phenoCommon Hemoglobin variant
HbVar.922 protEffect HBA2 114(GH1) Leu>Arg
HbVar.922 commonName Hb San Antonio
HbVar.922 ethnic Caucasian
HbVar.922 phenoCommon Hemoglobin variant
HbVar.923 protEffect HBA2 124(H6) Ala>Thr
HbVar.923 commonName Hb Santa Barnabas
HbVar.923 alias Hb Croxley Green
HbVar.923 ethnic English
HbVar.923 phenoCommon Hemoglobin variant
HbVar.924 protEffect HBA1 or HBA2 85(F5) Ser>Gly
HbVar.924 commonName Hb Wembley
HbVar.924 ethnic West Indian
HbVar.924 phenoCommon Hemoglobin variant
HbVar.925 protEffect HBB 22(B3) Asp>Val
HbVar.925 commonName Hb Rocky Mountain
HbVar.925 alias Hb Paddington
HbVar.925 ethnic Arabian
HbVar.925 phenoCommon Hemoglobin variant
HbVar.926 protEffect HBB 40(C5) Gln>His
HbVar.926 commonName Hb San Bruno
HbVar.926 ethnic African-American
HbVar.926 phenoCommon Hemoglobin variant
HbVar.927 protEffect HBB 98(FG4) His>Asn
HbVar.927 commonName Hb Santa Clara
HbVar.927 ethnic Mexican
HbVar.927 phenoCommon Hemoglobin variant
HbVar.928 protEffect HBB 109(G10) Asn>Ser
HbVar.928 commonName Hb Santa Juana
HbVar.928 alias Hb Serres
HbVar.928 ethnic Greek
HbVar.928 ethnic Mexican
HbVar.928 phenoCommon Hemoglobin variant
HbVar.929 protEffect HBB 143(H20) Ala>Thr
HbVar.929 commonName Hb Inglewood
HbVar.929 ethnic African-American
HbVar.929 phenoCommon Hemoglobin variant
HbVar.930 protEffect HBA1 127(H9) Asp>Glu
HbVar.930 commonName Hb Burlington
HbVar.930 ethnic Italian
HbVar.930 phenoCommon Hemoglobin variant
HbVar.931 protEffect HBB 135(H12) Val>Ala
HbVar.931 commonName Hb Yaounde
HbVar.931 alias Hb Mataro
HbVar.931 ethnic Cameroonian
HbVar.931 ethnic Portuguese
HbVar.931 phenoCommon Hemoglobin variant
HbVar.932 protEffect HBB 101(G2) Pro>Ala
HbVar.932 commonName Hb Nice
HbVar.932 ethnic Mediterranean
HbVar.932 phenoCommon Hemoglobin variant
HbVar.935 protEffect HBB 48(CD6) Asp>Val
HbVar.935 commonName Hb Muravera
HbVar.935 ethnic Sardinian
HbVar.935 phenoCommon Hemoglobin variant
HbVar.936 protEffect HBA1 62(E10) Lys->0
HbVar.936 commonName Hb Clinic
HbVar.936 ethnic Spanish
HbVar.936 phenoCommon Thalassemia
HbVar.937 protEffect HBA2 113(G19) His>Gln AND HBA2 114(GH1) - 117(GH4) Leu-Pro-Ala-Glu->0
HbVar.937 commonName Hb Lleida
HbVar.937 alias Codons 112-116 deletion of 12 nts of the alpha2 gene; alpha-Thal-2
HbVar.937 ethnic Spanish
HbVar.937 phenoCommon alpha-2 thalassemia
HbVar.938 commonName IVS-II-848 (C->G); beta+
HbVar.938 ethnic Macedonian
HbVar.938 ethnic Croatian
HbVar.938 ethnic Japanese
HbVar.938 phenoCommon beta+ thalassemia
HbVar.939 commonName IVS-II-849 (A->C); beta0
HbVar.939 ethnic Black
HbVar.939 phenoCommon beta0 thalassemia
HbVar.940 commonName IVS-II-849 (A->G); beta0
HbVar.940 ethnic Black
HbVar.940 phenoCommon beta0 thalassemia
HbVar.941 commonName IVS-II-850 (-G); beta0
HbVar.941 ethnic Italian
HbVar.941 phenoCommon beta0 thalassemia
HbVar.942 commonName IVS-II-850 (G->A); beta0
HbVar.942 ethnic Northern European
HbVar.942 phenoCommon beta0 thalassemia
HbVar.943 commonName IVS-II-850 (G->C); beta0
HbVar.943 ethnic Croatian
HbVar.943 phenoCommon beta0 thalassemia
HbVar.944 commonName IVS-II-850 (G->T); beta0
HbVar.944 ethnic Japanese
HbVar.944 phenoCommon beta0 thalassemia
HbVar.945 protEffect HBB 108(+G); modified C-terminal sequence: (108)Gly-Gln-Arg- Ala-Gly-Leu-Cys-Ala-Gly-Pro-Ser-Leu-Trp- Gln-Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH
HbVar.945 commonName Codons 106/107 (+G); CTG GGC(Leu Gly)->CTG G GC beta0
HbVar.945 ethnic Egyptian
HbVar.945 ethnic Black
HbVar.945 phenoCommon beta0 thalassemia
HbVar.946 protEffect HBB 109(G10) - 113(G14) Asn-Val-Leu-Val-Cys->0 AND inserted Ser
HbVar.946 commonName Codons 108/109/110/111/112 (-12 bp); beta0
HbVar.946 ethnic Swedish
HbVar.946 phenoCommon beta0 thalassemia
HbVar.947 protEffect HBB 110 (-G); modified C-terminal sequence: (110)Cys-Trp-Ser-Val-Cys-Trp-Pro-Ile-Thr-Leu- Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg-Leu- Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp-Leu- Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH
HbVar.947 commonName Hb Manhattan
HbVar.947 alias Codon 109 (-G); GTG(Val)->-TG beta0
HbVar.947 ethnic Lithuanian Ashkenazi
HbVar.947 phenoCommon beta0 thalassemia
HbVar.948 protEffect HBB 113(G14) Cys>Stop
HbVar.948 commonName Codon 112 (T->A); TGT(Cys)->TGA(stop codon) beta0
HbVar.948 ethnic Slovakian
HbVar.948 phenoCommon beta0 thalassemia
HbVar.949 protEffect HBB 115 (-CT); modified C-terminal sequence AND HBB 115(+G); modified C-terminal sequence
HbVar.949 commonName Hb Geneva
HbVar.949 alias Codon 114 (-CT; +G); CTG(Leu)->-GG beta0 (dominant beta-thal trait)
HbVar.949 ethnic Swiss
HbVar.949 phenoCommon beta0 thalassemia
HbVar.950 protEffect HBB 122(+A); modified C-terminal sequence: (122)Arg-Ile-His-Pro-Thr-Ser-Ala-Gly-Cys- Leu-Ser-Glu-Ser-Gly-Gly-Trp-Cys-(139)Gly-COOH
HbVar.950 commonName Codons 120/121 (+A); AAA GAA(Lys-Glu)->AAA A GAA beta0 (mild dominant type of beta-thal)
HbVar.950 ethnic Filipino
HbVar.950 phenoCommon beta0 thalassemia
HbVar.951 protEffect HBB 122(GH4) Glu>Stop
HbVar.951 commonName Codon 121 (G->T); GAA(Glu)->TAA(stop codon) beta0 (dominant beta-thal trait)
HbVar.951 ethnic Czechoslovakian
HbVar.951 ethnic English
HbVar.951 ethnic Japanese
HbVar.951 ethnic Korean
HbVar.951 ethnic Greek Cypriot
HbVar.951 phenoCommon beta0 thalassemia
HbVar.952 protEffect HBB 124 (-A); modified C-terminal sequence: (124)Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys- Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro- Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(157)Tyr-COOH
HbVar.952 commonName Hb Makabe
HbVar.952 alias Codon 123 (-A); ACC(Thr)->-CC Dominant inclusion body beta-thal trait
HbVar.952 ethnic Japanese
HbVar.952 phenoCommon beta0 thalassemia
HbVar.953 protEffect HBB 124 - 126 (-ACCCCACCA); modified C-terminal sequence: (124)Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-Val-Ala- Gly-Val-Ala-Asn-Ala-Leu-Ala-His-Lys-Tyr- (144)His-COOH
HbVar.953 commonName Codons 123/124/125 (-ACCCCACC); Dominant inclusion body beta-thal trait
HbVar.953 ethnic Thai
HbVar.953 phenoCommon beta0 thalassemia
HbVar.954 protEffect HBB 125 (-A); modified C-terminal sequence: (125)Pro-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp- Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr- Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH
HbVar.954 commonName Codon 124 (-A); CCA(Pro)->CC- Dominant, inclusion body beta-thal trait
HbVar.954 ethnic Russian
HbVar.954 phenoCommon beta0 thalassemia
HbVar.955 protEffect HBB 126 (-A); modified C-terminal sequence: (126)Pro-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp- Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser- Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn- Phe-(157)Tyr-COOH
HbVar.955 commonName Codon 125 (-A); CCA(Pro)->CC- Dominant inclusion body beta-thal trait
HbVar.955 ethnic Japanese
HbVar.955 phenoCommon beta0 thalassemia
HbVar.956 protEffect Pro- inserted between codons 126(H3) and 127(H4) of HBB
HbVar.956 commonName Codons 124-126 (+CCA); Dominant inclusion body beta-thal trait
HbVar.956 ethnic Russian
HbVar.956 ethnic Armenian
HbVar.956 phenoCommon beta0 thalassemia
HbVar.957 protEffect HBB 127 (-T); modified C-terminal sequence: (127)Gly-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu- Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile- Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe- (157)Tyr-COOH
HbVar.957 commonName Hb Vercelli
HbVar.957 alias Codon 126 (-T); GTG(Val)->G-G beta0
HbVar.957 ethnic Italian
HbVar.957 phenoCommon beta0 thalassemia
HbVar.958 protEffect HBB 127 - 132 (-TGCAGGCTGCCTATCAG); modified C-terminal sequence: (127)Glu-Ser-Gly-Gly-Trp-Cys-(133)Gly-COOH
HbVar.958 commonName Codons 126-131 (Val-Gln-Ala-Ala-Thr-Gln) (-17 bp); GTG CAG GCT GCC TAT CAG->G beta0
HbVar.958 ethnic Pakistani
HbVar.958 ethnic Pathan
HbVar.958 phenoCommon beta0 thalassemia
HbVar.959 protEffect HBB 128(H5) Gln>Pro
HbVar.959 commonName Codon 127 (A->C); CAG(Gln)->CCG(Pro) Dominant inclusion body beta-thal trait
HbVar.959 ethnic English
HbVar.959 phenoCommon beta0 thalassemia
HbVar.960 protEffect HBB 128(H5) Gln>Arg
HbVar.960 commonName Codon 127 (A->G); CAG(Gln)->CGG(Arg) Dominant inclusion body beta-thal trait
HbVar.960 ethnic French
HbVar.960 phenoCommon beta0 thalassemia
HbVar.961 protEffect HBB 128(H5) Gln>Stop
HbVar.961 commonName Codon 127 (C->T); CAG(Gln)->TAG(stop codon) beta0 (dominant, inclusion body, beta-thal trait)
HbVar.961 ethnic English
HbVar.961 phenoCommon beta0 thalassemia
HbVar.962 protEffect HBB 128(H5) - 129(H6) Gln-Ala->0 AND inserted Pro
HbVar.962 commonName Codons 127/128 (-AGG); CAG GCT(Gln Ala)->C--- CT(Pro) beta0
HbVar.962 ethnic Japanese
HbVar.962 phenoCommon beta0 thalassemia
HbVar.963 protEffect HBB 128 - 130 (-GCTG); modified C-terminal sequence AND HBB 132 - 136 (-AAAGTGGTGGC); modified C-terminal sequence AND HBB 129(+CCACA); modified C-terminal sequence
HbVar.963 commonName Codons 128/129 (-4, -GCTG; +5, +CCACA) Codons 132-135 (-11, -AAAGTGGTGGC) Dominant inclusion body beta-thal trait
HbVar.963 ethnic Irish
HbVar.963 phenoCommon beta0 thalassemia
HbVar.964 protEffect HBB 134 - 138 (-TGGCTGGTGT); modified C-terminal sequence AND HBB 135(+GCAG); modified C-terminal sequence
HbVar.964 commonName Codons 134-137 [-(G)TGGCTGGTGT(G) and +(G)GCAG(G)]; Dominant inclusion body beta-thal trait
HbVar.964 ethnic Portuguese
HbVar.964 phenoCommon beta0 thalassemia
HbVar.965 commonName +1480 (C->G); beta+ (silent; only expressed in compound heterozygotes)
HbVar.965 alias 3' terminating codon +6 (C->G) beta+
HbVar.965 ethnic Greek
HbVar.965 phenoCommon beta+ thalassemia
HbVar.966 commonName 3'UTR (-GCATCTGGATTCT) beta (0 or + unclear)
HbVar.966 ethnic Turk
HbVar.966 phenoCommon beta (0 or + unclear) thalassemia
HbVar.968 commonName Poly A (T->C); AATAAA->AACAAA beta+
HbVar.968 ethnic Black
HbVar.968 ethnic Turk
HbVar.968 phenoCommon beta+ thalassemia
HbVar.969 commonName Poly A (A->G); AATAAA->AATGAA beta+
HbVar.969 ethnic Greek
HbVar.969 ethnic Macedonian
HbVar.969 ethnic Bulgarian
HbVar.969 ethnic Albania
HbVar.969 phenoCommon beta+ thalassemia
HbVar.970 commonName Poly A (A->G); AATAAA->AATAGA beta+
HbVar.970 ethnic Malaysian
HbVar.970 ethnic Singapore
HbVar.970 phenoCommon beta+ thalassemia
HbVar.971 commonName Poly A (A->G); AATAAA->AATAAG beta+
HbVar.971 ethnic United Arab Emirates
HbVar.971 ethnic Kurdish Jewish
HbVar.971 phenoCommon beta+ thalassemia
HbVar.972 commonName Poly A (-AT or -TA); AATAAA->A--AAA beta+
HbVar.972 ethnic French
HbVar.972 phenoCommon beta+ thalassemia
HbVar.973 commonName Poly A (-AATAA); AATAAA->-----A beta+
HbVar.973 ethnic Arabian
HbVar.973 phenoCommon beta+ thalassemia
HbVar.974 commonName 25 bp deletion beta0
HbVar.974 ethnic Lebanese
HbVar.974 ethnic Kuwaiti
HbVar.974 ethnic United Arab Emirates
HbVar.974 ethnic Oman
HbVar.974 ethnic Iranian
HbVar.974 ethnic Pakistani
HbVar.974 ethnic Syria
HbVar.974 ethnic Bahrein
HbVar.974 phenoCommon beta0 thalassemia
HbVar.975 commonName 44 bp deletion beta0
HbVar.975 ethnic Greek
HbVar.975 ethnic Macedonian
HbVar.975 phenoCommon beta0 thalassemia
HbVar.976 commonName 105 bp deletion beta0
HbVar.976 ethnic Thai
HbVar.976 phenoCommon beta0 thalassemia
HbVar.977 commonName 290 bp deletion beta0
HbVar.977 ethnic Lebanese
HbVar.977 ethnic Turkish
HbVar.977 phenoCommon beta0 thalassemia
HbVar.978 commonName 532 bp deletion beta0
HbVar.978 ethnic Black
HbVar.978 phenoCommon beta0 thalassemia
HbVar.979 commonName 619 bp deletion beta0
HbVar.979 ethnic Oman
HbVar.979 ethnic Pakistani
HbVar.979 ethnic Maharashtran
HbVar.979 ethnic Pathan
HbVar.979 ethnic Thai
HbVar.979 phenoCommon beta0 thalassemia
HbVar.980 commonName 1,393 bp deletion beta0
HbVar.980 ethnic Black
HbVar.980 phenoCommon beta0 thalassemia
HbVar.981 commonName 1,605 bp deletion the Croatian deletion beta0
HbVar.981 ethnic Croatian
HbVar.981 phenoCommon beta0 thalassemia
HbVar.987 commonName 12,620 bp deletion; the Dutch deletion beta0
HbVar.987 ethnic Dutch
HbVar.987 phenoCommon beta0 thalassemia
HbVar.989 commonName ~45 kb deletion; the Filipino deletion beta0
HbVar.989 ethnic Filipino
HbVar.989 ethnic Indonesian
HbVar.989 ethnic Malay
HbVar.989 phenoCommon beta0 thalassemia
HbVar.991 commonName -77 (T->C) delta (0 or + unclear)
HbVar.991 ethnic Japanese
HbVar.991 phenoCommon delta (0 or + unclear) thalassemia
HbVar.992 commonName -65 (A->G) delta+
HbVar.992 ethnic Greek
HbVar.992 ethnic Cypriot
HbVar.992 phenoCommon delta+ thalassemia
HbVar.993 commonName -55 (T->C) delta+
HbVar.993 ethnic Greek
HbVar.993 ethnic Cypriot
HbVar.993 phenoCommon delta+ thalassemia
HbVar.994 commonName -36 (C->A); probably delta+
HbVar.994 ethnic Greek
HbVar.994 phenoCommon delta+ thalassemia
HbVar.995 protEffect HBD 5(A1) Thr>Ile
HbVar.995 commonName Codon 4 (ACT->ATT) delta+
HbVar.995 ethnic Greek
HbVar.995 ethnic Cypriot
HbVar.995 phenoCommon delta+ thalassemia
HbVar.996 protEffect HBD 31(B12) Arg>Thr
HbVar.996 commonName Codon 30 (AGG->ACG) delta0
HbVar.996 ethnic Italian
HbVar.996 phenoCommon delta0 thalassemia
HbVar.997 commonName IVS-I-2 (T->C) delta0
HbVar.997 ethnic Italian
HbVar.997 phenoCommon delta0 thalassemia
HbVar.998 protEffect HBD 38(C3) Trp>Stop
HbVar.998 commonName Codon 37 (TGG->TAG) delta0
HbVar.998 ethnic Sardinian
HbVar.998 phenoCommon delta0 thalassemia
HbVar.999 protEffect HBD 60 (-A); modified C-terminal sequence: (60)Arg-COOH
HbVar.999 commonName Codon 59 (-A); AAG(Lys)->-AG delta0
HbVar.999 ethnic Egyptian
HbVar.999 phenoCommon delta0 thalassemia
HbVar.1000 protEffect HBD 91(+T); modified C-terminal sequence: (91)stop codon
HbVar.1000 commonName Codon 91 (+T) delta0
HbVar.1000 ethnic Belgian
HbVar.1000 phenoCommon delta0 thalassemia
HbVar.1001 commonName IVS-II-897, A->C; AG^CT->CGCT delta0
HbVar.1001 ethnic Greek
HbVar.1001 ethnic Cypriot
HbVar.1001 phenoCommon delta0 thalassemia
HbVar.1002 protEffect HBD 117(G18) Arg>Cys
HbVar.1002 commonName Codon 116 (CGC->TGC) delta+
HbVar.1002 ethnic Greek
HbVar.1002 ethnic Cypriot
HbVar.1002 phenoCommon delta+ thalassemia
HbVar.1003 protEffect HBD 142(H19) Leu>Pro
HbVar.1003 commonName Codon 141 (CTG->CCG) delta (0 or + unclear)
HbVar.1003 ethnic Greek
HbVar.1003 ethnic Cypriot
HbVar.1003 phenoCommon delta (0 or + unclear) thalassemia
HbVar.1004 commonName Poly A +69 (G->A) delta
HbVar.1004 ethnic Sardinian
HbVar.1004 phenoCommon delta (0 or + unclear) thalassemia
HbVar.1005 commonName -7.2 kb; the Corfu deletion delta0
HbVar.1005 ethnic Greek
HbVar.1005 ethnic Italian
HbVar.1005 phenoCommon delta0 thalassemia
HbVar.1006 commonName -202 (C->G) Ggamma; nd-HPFH
HbVar.1006 ethnic Black
HbVar.1006 phenoCommon HPFH thalassemia
HbVar.1007 commonName -202 (C->T) Agamma; nd-HPFH
HbVar.1007 ethnic Black
HbVar.1007 phenoCommon HPFH thalassemia
HbVar.1009 commonName -198 (T->C) Agamma; the British nd-HPFH
HbVar.1009 ethnic British
HbVar.1009 ethnic Australian
HbVar.1009 phenoCommon HPFH thalassemia
HbVar.1010 commonName -196 (C->T) Agamma; the Italian nd-HPFH
HbVar.1010 ethnic Italian
HbVar.1010 phenoCommon HPFH thalassemia
HbVar.1011 commonName -195 (C->G) Agamma; the Brazilian nd-HPFH
HbVar.1011 ethnic Brazilian
HbVar.1011 phenoCommon HPFH thalassemia
HbVar.1012 commonName -175 (T->C) Ggamma; nd-HPFH
HbVar.1012 ethnic Black
HbVar.1012 phenoCommon HPFH thalassemia
HbVar.1013 commonName -175 (T->C) Agamma; the Black nd-HPFH
HbVar.1013 ethnic Black
HbVar.1013 phenoCommon HPFH thalassemia
HbVar.1014 commonName -117 (G->A) Agamma; the Greek-Italian nd-HPFH
HbVar.1014 ethnic Greek
HbVar.1014 ethnic Italian
HbVar.1014 phenoCommon HPFH thalassemia
HbVar.1015 commonName -117 (G->A) Agamma; the Black-Greek nd-HPFH
HbVar.1015 ethnic Black
HbVar.1015 phenoCommon HPFH thalassemia
HbVar.1016 commonName -114 (C->G) Ggamma; the Australian nd-HPFH
HbVar.1016 ethnic Australian
HbVar.1016 phenoCommon HPFH thalassemia
HbVar.1017 commonName -114 (C->T) Ggamma; the Japanese nd-HPFH
HbVar.1017 ethnic Japanese
HbVar.1017 phenoCommon HPFH thalassemia
HbVar.1018 commonName -114 (C->T) Agamma; the Georgia nd-HPFH
HbVar.1018 ethnic Black
HbVar.1018 phenoCommon HPFH thalassemia
HbVar.1019 commonName -110 (A->C) Ggamma; the Czech nd-HPFH
HbVar.1019 ethnic Czechoslovakian
HbVar.1019 phenoCommon HPFH thalassemia
HbVar.1020 commonName The 13 bp deletion (-CAATAGCCTTGAC at -114 through -102); HPFH
HbVar.1020 ethnic Black
HbVar.1020 phenoCommon HPFH thalassemia
HbVar.1021 commonName HPFH-1; Black
HbVar.1021 ethnic Black
HbVar.1021 phenoCommon HPFH thalassemia
HbVar.1021 phenoCommon mild Erythrocytosis
HbVar.1022 commonName HPFH-2; Ghanaian
HbVar.1022 ethnic Black
HbVar.1022 ethnic Ghanaian
HbVar.1022 phenoCommon HPFH thalassemia
HbVar.1022 phenoCommon mild Erythrocytosis
HbVar.1023 commonName HPFH-3; Indian
HbVar.1023 ethnic Indian
HbVar.1023 phenoCommon HPFH thalassemia
HbVar.1028 commonName Indian GgammaAgamma(deltabeta)0-Thal
HbVar.1028 ethnic Indian
HbVar.1028 phenoCommon (delta-beta)0 thalassemia
HbVar.1029 commonName Japanese (deltabeta)0-Thal
HbVar.1029 ethnic Japanese
HbVar.1029 phenoCommon (delta-beta)0 thalassemia
HbVar.1030 commonName Spanish (deltabeta)0-Thal
HbVar.1030 ethnic Spanish
HbVar.1030 phenoCommon (delta-beta)0 thalassemia
HbVar.1030 phenoCommon chronic Anemia
HbVar.1030 phenoCommon hemolytic Anemia
HbVar.1030 phenoCommon mild Anemia
HbVar.1031 commonName Black (deltabeta)0-Thal
HbVar.1031 ethnic Black
HbVar.1031 phenoCommon (delta-beta)0 thalassemia
HbVar.1035 commonName Sicilian (deltabeta)0-Thal
HbVar.1035 ethnic Mediterranean
HbVar.1035 ethnic Sicilian
HbVar.1035 ethnic Italian
HbVar.1035 ethnic Yugoslavian
HbVar.1035 ethnic Hungarian
HbVar.1035 ethnic Greek
HbVar.1035 ethnic Turk
HbVar.1035 ethnic Israel
HbVar.1035 ethnic Egyptian
HbVar.1035 phenoCommon (delta-beta)0 thalassemia
HbVar.1039 commonName German Ggamma(Agammadeltabeta)0-Thal
HbVar.1039 ethnic German
HbVar.1039 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1042 commonName Turkish Ggamma(Agammadeltabeta)0-Thal
HbVar.1042 ethnic Turk
HbVar.1042 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1042 phenoCommon moderate Anemia
HbVar.1043 commonName Malay-2 Ggamma(Agammadeltabeta)0-Thal
HbVar.1043 ethnic Malay
HbVar.1043 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1043 phenoCommon moderate Anemia
HbVar.1043 phenoCommon mild Hypochromia
HbVar.1043 phenoCommon few Target cells
HbVar.1043 phenoCommon Jaundice
HbVar.1045 commonName Black Ggamma(Agammadeltabeta)0-Thal
HbVar.1045 ethnic Black
HbVar.1045 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1046 commonName Chinese Ggamma(Agammadeltabeta)0-Thal
HbVar.1046 ethnic Chinese
HbVar.1046 phenoCommon (Agamma-delta-beta)0 thalassemia
HbVar.1048 commonName HPFH-6
HbVar.1048 alias Thai Ggamma(Agammadeltabeta)0-Thal
HbVar.1048 ethnic Thai
HbVar.1048 phenoCommon HPFH thalassemia
HbVar.1052 commonName Anglo-Saxon (epsilon-gamma-delta-beta)0-Thal
HbVar.1052 ethnic Anglo-Saxon
HbVar.1052 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1055 commonName Irish (epsilon-gamma-delta-beta)0-Thal
HbVar.1055 ethnic Irish
HbVar.1055 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1056 commonName Dutch (epsilon-gamma-delta-beta)0-Thal
HbVar.1056 ethnic Dutch
HbVar.1056 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1058 commonName Hispanic (epsilon-gamma-delta-beta)0-Thal
HbVar.1058 ethnic Hispanic
HbVar.1058 phenoCommon (epsilon-gamma-delta-beta)0 thalassemia
HbVar.1059 commonName Initiation codon (A->G); of an alpha2alpha1 hybrid gene -alpha(-3.7 kb) alpha-Thal-1
HbVar.1059 ethnic Black
HbVar.1059 phenoCommon alpha-1 thalassemia
HbVar.1061 protEffect HBA2 Initiation codon Met>Thr
HbVar.1061 commonName Initiation codon (T->C); ATG->ACG of the alpha2 gene alpha-Thal-2
HbVar.1061 ethnic Italian
HbVar.1061 phenoCommon alpha-2 thalassemia
HbVar.1061 phenoCommon marked Anemia
HbVar.1061 phenoCommon marked Microcytosis
HbVar.1062 protEffect HBA2 Initiation codon Met->0
HbVar.1062 commonName Initiation codon (-T); ATG->A-G of the alpha2 gene alpha-Thal-2
HbVar.1062 ethnic Vietnamese
HbVar.1062 phenoCommon alpha-2 thalassemia
HbVar.1063 commonName Initiation codon (A->G); ATG->GTG of the alpha1 gene alpha-Thal-2
HbVar.1063 ethnic Sardinian
HbVar.1063 phenoCommon alpha-2 thalassemia
HbVar.1065 commonName IVS-I donor site (GAG GTG AGG->GAG G- - - - -); alpha2-globin gene
HbVar.1065 alias alpha-thal-2 (-5nt)
HbVar.1065 ethnic Mediterranean
HbVar.1065 phenoCommon alpha-2 thalassemia
HbVar.1066 commonName IVS-I-116 (A->G) alpha2 gene; alpha-Thal-2
HbVar.1066 ethnic Dutch
HbVar.1066 phenoCommon alpha-2 thalassemia
HbVar.1067 commonName IVS-I-117 (G->A) alpha1 gene; alpha-Thal-2
HbVar.1067 ethnic Indian
HbVar.1067 phenoCommon alpha-2 thalassemia
HbVar.1068 protEffect HBA1 52 - 56 (-GCTCTGCCCAGGT); modified C-terminal sequence: (52)Val-Arg-Ala-Thr-Ala-Arg-Arg-Trp-Pro-Thr- (62)Arg-COOH
HbVar.1068 commonName Deletion of 13 nts from codons 51-55 of the alpha1 gene; alpha-Thal-2
HbVar.1068 ethnic Spanish
HbVar.1068 phenoCommon alpha-2 thalassemia
HbVar.1069 protEffect HBA2 117(GH4) Glu>Stop
HbVar.1069 commonName Codon 116 (G->T) of the alpha2 gene; GAG->TAG alpha-Thal-2
HbVar.1069 ethnic Black
HbVar.1069 phenoCommon alpha-2 thalassemia
HbVar.1070 commonName Poly A (A->G); AATAAA->AATAAG of the alpha2 gene alpha-Thal-2
HbVar.1070 ethnic Arabian
HbVar.1070 phenoCommon alpha-2 thalassemia
HbVar.1071 commonName Poly A (A->G); AATAAA->AATGAA of the alpha2 gene alpha-Thal-2
HbVar.1071 ethnic Turk
HbVar.1071 ethnic Cypriot
HbVar.1071 ethnic Kuwaiti
HbVar.1071 phenoCommon alpha-2 thalassemia
HbVar.1072 commonName Poly A; AATAAA->AATA- - of the alpha2 gene alpha-thal-2
HbVar.1072 ethnic Indian
HbVar.1072 phenoCommon alpha-2 thalassemia
HbVar.1073 commonName 3'UTR (-16 bp) alpha2 gene; alpha-Thal-2
HbVar.1073 ethnic Arabian
HbVar.1073 phenoCommon alpha-2 thalassemia
HbVar.1074 commonName 2.7 kb deletion involving the alpha1 gene alpha-Thal-2
HbVar.1074 ethnic Chinese
HbVar.1074 phenoCommon alpha-2 thalassemia
HbVar.1075 commonName 3.5 kb deletion involving the alpha1 gene alpha-Thal-2
HbVar.1075 ethnic Indian
HbVar.1075 phenoCommon alpha-2 thalassemia
HbVar.1076 commonName 3.7 kb (type I) deletion alpha-2
HbVar.1076 ethnic Indian
HbVar.1076 ethnic Far East
HbVar.1076 ethnic African
HbVar.1076 ethnic Mediterranean
HbVar.1076 phenoCommon alpha-2 thalassemia
HbVar.1080 commonName 5.3 kb deletion; alpha-Thal-2
HbVar.1080 ethnic Italian
HbVar.1080 phenoCommon alpha-2 thalassemia
HbVar.1083 commonName - -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes alpha-Thal-1
HbVar.1083 ethnic Black
HbVar.1083 phenoCommon alpha-1 thalassemia
HbVar.1084 commonName - -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes alpha-Thal-1
HbVar.1084 ethnic Spanish
HbVar.1084 phenoCommon alpha-1 thalassemia
HbVar.1085 commonName - -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes alpha-Thal-1
HbVar.1085 ethnic Spanish
HbVar.1085 phenoCommon alpha-1 thalassemia
HbVar.1086 commonName - -(SEA); deletion of ~20 kb including both alpha-globin genes alpha-Thal-1
HbVar.1086 ethnic East Asian
HbVar.1086 phenoCommon alpha-1 thalassemia
HbVar.1087 commonName - -(MED-I); deletion of ~17.5 kb including both alpha-globin genes alpha-Thal-1
HbVar.1087 ethnic Mediterranean
HbVar.1087 phenoCommon alpha-1 thalassemia
HbVar.1088 commonName -(alpha)20.5; this 20.5 kb deletion involves alpha2 and the 5' end of alpha1; alpha-Thal-1
HbVar.1088 ethnic Mediterranean
HbVar.1088 ethnic Central Asian
HbVar.1088 phenoCommon alpha-1 thalassemia
HbVar.1089 commonName - -(MA); deletion of ~22 kb involving both alpha genes alpha-Thal-1
HbVar.1089 ethnic Spanish
HbVar.1089 phenoCommon alpha-1 thalassemia
HbVar.1090 commonName - -(SA); deletion of 22.8-23.7 kb involving both alpha-globin genes; alpha-Thal-1
HbVar.1090 ethnic South African
HbVar.1090 phenoCommon alpha-1 thalassemia
HbVar.1091 commonName - -(BRIT); deletion of ~26 kb involving both alpha genes alpha-Thal-1
HbVar.1091 ethnic British
HbVar.1091 ethnic Black
HbVar.1091 phenoCommon alpha-1 thalassemia
HbVar.1093 commonName - -(CL); deletion of at least 40 kb involving the two alpha and zeta genes alpha-Thal-1
HbVar.1093 phenoCommon alpha-1 thalassemia
HbVar.1094 commonName - -(FIL); a deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1
HbVar.1094 ethnic Filipino
HbVar.1094 phenoCommon alpha-1 thalassemia
HbVar.1095 commonName - -(THAI); a deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1
HbVar.1095 ethnic Thai
HbVar.1095 phenoCommon alpha-1 thalassemia
HbVar.1096 commonName - -(CAL); deletion of 32 kb involving both the alpha and zeta genes alpha-Thal-1
HbVar.1096 ethnic Italian
HbVar.1096 ethnic Spanish
HbVar.1096 phenoCommon alpha-1 thalassemia
HbVar.1097 commonName - -(MED-II); a deletion of 26.5 kb involving the two alpha and zeta genes alpha-Thal-1
HbVar.1097 ethnic Turk
HbVar.1097 ethnic Mediterranean
HbVar.1097 phenoCommon alpha-1 thalassemia
HbVar.1100 commonName - -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus alpha-Thal-1
HbVar.1100 ethnic British
HbVar.1100 ethnic German
HbVar.1100 phenoCommon alpha-1 thalassemia
HbVar.1102 commonName - -(MC); a deletion of at least 46 kb involving both alpha genes and zeta gene alpha-Thal-1
HbVar.1102 ethnic British
HbVar.1102 phenoCommon alpha-1 thalassemia
HbVar.1103 protEffect HBB 4(NA3) Leu>Val
HbVar.1103 commonName Hb Kamakura
HbVar.1103 ethnic Japanese
HbVar.1103 phenoCommon Hemoglobin variant
HbVar.1105 protEffect HBA2 140(HC1) Lys>Glu
HbVar.1105 commonName Hb Hanamaki-2
HbVar.1105 ethnic Caucasian
HbVar.1105 ethnic English
HbVar.1105 ethnic French
HbVar.1105 ethnic Irish
HbVar.1105 ethnic American Indian
HbVar.1105 phenoCommon Hemoglobin variant
HbVar.1106 protEffect HBA1 123(H5) His>Tyr
HbVar.1106 commonName Hb Yanase
HbVar.1106 ethnic Japanese
HbVar.1106 phenoCommon Hemoglobin variant
HbVar.1107 protEffect HBD 9(A5) Lys>Glu
HbVar.1107 commonName Hb A2-Toranomon
HbVar.1107 ethnic Japanese
HbVar.1107 phenoCommon Hemoglobin variant
HbVar.1108 protEffect HBB 89(F4) Leu>Val
HbVar.1108 commonName Hb Oofuna
HbVar.1108 ethnic Japanese
HbVar.1108 phenoCommon Hemoglobin variant
HbVar.1109 protEffect HBA1 or HBA2 90(FG1) His>Arg
HbVar.1109 commonName Hb Tamano
HbVar.1109 ethnic Japanese
HbVar.1109 phenoCommon Hemoglobin variant
HbVar.1110 protEffect HBB 70(E13) Gly->0 AND Gly-Leu-Gly- inserted between 69(E12) and 71(E14) of HBB
HbVar.1110 commonName Hb Nishinomiya
HbVar.1110 phenoCommon Hemoglobin variant
HbVar.1111 protEffect HBA2 2(NA1) Val>Ala
HbVar.1111 commonName Hb Lyon-Bron
HbVar.1111 ethnic French
HbVar.1111 phenoCommon Hemoglobin variant
HbVar.1112 protEffect HBA1 4(A1) Ser>Phe
HbVar.1112 commonName Hb Douala
HbVar.1112 ethnic Cameroonian
HbVar.1112 phenoCommon Hemoglobin variant
HbVar.1113 protEffect HBB 137(H14) Gly>Arg
HbVar.1113 commonName Hb 'tlangeland
HbVar.1113 ethnic Chinese
HbVar.1113 phenoCommon Hemoglobin variant
HbVar.1114 protEffect HBA2 56(E4) Val>Ala
HbVar.1114 commonName Hb Gerland
HbVar.1114 ethnic French
HbVar.1114 phenoCommon Hemoglobin variant
HbVar.1115 protEffect HBG2 76(E19) Ile>Val
HbVar.1115 commonName Hb F-Coigneres
HbVar.1115 phenoCommon Hemoglobin variant
HbVar.1116 protEffect HBA2 10(A7) Asn>Ser
HbVar.1116 commonName Hb Zurich-Hottingen
HbVar.1116 ethnic Spanish
HbVar.1116 phenoCommon Hemoglobin variant
HbVar.1117 protEffect HBA1 41(C5) Lys>Asn
HbVar.1117 commonName Hb Saratoga Springs
HbVar.1117 ethnic Swedish
HbVar.1117 phenoCommon Hemoglobin variant
HbVar.1118 protEffect HBB 117(G18) His>Tyr
HbVar.1118 commonName Hb Rhode Island
HbVar.1118 alias Hb Southwark
HbVar.1118 phenoCommon Hemoglobin variant
HbVar.1119 protEffect HBB 42(C7) Phe>Cys
HbVar.1119 commonName Hb Ilmenau
HbVar.1119 ethnic German
HbVar.1119 phenoCommon Hemoglobin variant
HbVar.1120 protEffect HBA1 103(G9) Ser>Arg
HbVar.1120 commonName Hb Manitoba II
HbVar.1120 ethnic English
HbVar.1120 ethnic German
HbVar.1120 ethnic Irish
HbVar.1120 ethnic Italian
HbVar.1120 phenoCommon Hemoglobin variant
HbVar.1121 protEffect HBA2 103(G9) Ser>Arg
HbVar.1121 commonName Hb Manitoba III
HbVar.1121 ethnic Taiwanese
HbVar.1121 phenoCommon Hemoglobin variant
HbVar.1122 protEffect HBA1 10(A7) Asn>Lys
HbVar.1122 commonName Hb Delfzicht
HbVar.1122 ethnic Dutch
HbVar.1122 phenoCommon Hemoglobin variant
HbVar.1123 protEffect HBA1 120(H2) Pro>Ser
HbVar.1123 commonName Hb Groene Hart
HbVar.1123 alias Hb Bernalda
HbVar.1123 ethnic Italian
HbVar.1123 ethnic Moroccan
HbVar.1123 phenoCommon Hemoglobin variant
HbVar.1125 protEffect HBB 10(A6) Ser>Tyr AND HBB 122(GH4) Glu>Gln
HbVar.1125 commonName Hb D-Agri
HbVar.1125 ethnic Indian
HbVar.1125 phenoCommon Hemoglobin variant
HbVar.1126 protEffect HBD 147(HC3) His>Arg
HbVar.1126 commonName Hb A2-Monreale
HbVar.1126 ethnic Sicilian
HbVar.1126 phenoCommon Hemoglobin variant
HbVar.1128 protEffect HBB 12(A8) Val>Ile AND HBB 122(GH4) Glu>Lys
HbVar.1128 commonName Hb O-Tibesti
HbVar.1128 ethnic Sudanese
HbVar.1128 ethnic Chadian
HbVar.1128 phenoCommon Hemoglobin variant
HbVar.1129 protEffect HBB 9(A5) Lys>Asn
HbVar.1129 commonName Hb Limassol
HbVar.1129 ethnic Greek Cypriot
HbVar.1129 phenoCommon Hemoglobin variant
HbVar.1135 commonName Hb Antalya
HbVar.1135 ethnic Turkish
HbVar.1135 phenoCommon Thalassemia
HbVar.1136 protEffect HBB 113(G14) Cys>Phe
HbVar.1136 commonName Hb Canterbury
HbVar.1136 ethnic New Zealand
HbVar.1136 phenoCommon Hemoglobin variant
HbVar.1137 protEffect HBB 127(H4) Val>Leu
HbVar.1137 commonName Hb Molfetta
HbVar.1137 ethnic Italian
HbVar.1137 phenoCommon Hemoglobin variant
HbVar.1138 commonName Hb Zurich-Altstetten
HbVar.1138 ethnic Thai
HbVar.1138 phenoCommon Hemoglobin variant
HbVar.1139 protEffect HBA1 or HBA2 45(CE2) Pro>Ala
HbVar.1139 commonName Hb Milne
HbVar.1139 phenoCommon Hemoglobin variant
HbVar.1141 protEffect HBB 147(HC3) His>Gln
HbVar.1141 commonName Hb Kodaira II
HbVar.1141 ethnic Chinese
HbVar.1141 ethnic Thai
HbVar.1141 phenoCommon Hemoglobin variant
HbVar.1142 protEffect HBA1 133(+T); modified C-terminal sequence: (133)Cys-Glu-His-Arg-Ala-Asp-Leu-Gln- Ile-Pro-Leu-Ser-Trp-Ser-Leu-Gly-Gly-His- Ala-Ser-Cys-Pro-Leu-Gly-Leu-Pro-Pro-Ala- Pro-Pro-Pro-Leu-Pro-Ala-Pro-Val-Pro-Pro- Trp-Ser-Leu-Asn-Lys-(176)Val-COOH
HbVar.1142 commonName Hb Pak Num Po
HbVar.1142 ethnic Thai
HbVar.1142 phenoCommon Thalassemia
HbVar.1143 protEffect HBB 65(E8) Gly>Ala
HbVar.1143 commonName Hb Aubagne
HbVar.1143 ethnic French Caucasian
HbVar.1143 phenoCommon Hemoglobin variant
HbVar.1144 protEffect HBB 114(G15) Val>Leu
HbVar.1144 commonName Hb Champagne
HbVar.1144 ethnic French
HbVar.1144 phenoCommon Hemoglobin variant
HbVar.1145 protEffect HBB 62(E5) Lys>Gln
HbVar.1145 commonName Hb Pocos de Caldas
HbVar.1145 ethnic Brazilian
HbVar.1145 phenoCommon Hemoglobin variant
HbVar.1146 protEffect HBG1 122(GH4) Glu>Gln
HbVar.1146 commonName Hb F-Campinas
HbVar.1146 ethnic Brazilian
HbVar.1146 phenoCommon Hemoglobin variant
HbVar.1147 protEffect HBB 103(G4) Asn>His
HbVar.1147 commonName Hb Canebiere
HbVar.1147 phenoCommon Hemoglobin variant
HbVar.1148 protEffect HBB 117(G18) His>Leu
HbVar.1148 commonName Hb Vexin
HbVar.1148 ethnic French Caucasian
HbVar.1148 phenoCommon Hemoglobin variant
HbVar.1149 protEffect HBB 35(B16) Val>Leu
HbVar.1149 commonName Hb Nantes
HbVar.1149 ethnic French Caucasian
HbVar.1149 phenoCommon Hemoglobin variant
HbVar.1150 protEffect HBB 77(E20) Ala>Val
HbVar.1150 commonName Hb Harlequin
HbVar.1150 ethnic English
HbVar.1150 phenoCommon Hemoglobin variant
HbVar.1151 protEffect HBB 117(G18) His>Pro
HbVar.1151 commonName Hb Miami
HbVar.1151 ethnic Brazilian
HbVar.1151 phenoCommon Hemoglobin variant
HbVar.1152 protEffect HBG2 39(C4) Thr>Pro
HbVar.1152 commonName Hb F-Bonheiden
HbVar.1152 ethnic Caucasian
HbVar.1152 phenoCommon Hemoglobin variant
HbVar.1153 protEffect HBB 32(B13) Leu>Val
HbVar.1153 commonName Hb Badalona
HbVar.1153 ethnic Spanish
HbVar.1153 phenoCommon Hemoglobin variant
HbVar.1154 protEffect HBB 34(B15) Val>Met
HbVar.1154 commonName Hb Rio Claro
HbVar.1154 ethnic Brazilian
HbVar.1154 phenoCommon Hemoglobin variant
HbVar.1155 protEffect HBA2 38(C2) Pro>Leu
HbVar.1155 commonName Hb Manawatu
HbVar.1155 ethnic British
HbVar.1155 phenoCommon Hemoglobin variant
HbVar.1156 protEffect HBB 50(CD8) Ser>Cys
HbVar.1156 commonName Hb Colima
HbVar.1156 ethnic Mexican
HbVar.1156 phenoCommon Hemoglobin variant
HbVar.1157 protEffect HBB 58(E1) Asn>His
HbVar.1157 commonName Hb Sidcup
HbVar.1157 phenoCommon Hemoglobin variant
HbVar.1158 protEffect HBB 44(CD2) Glu>Lys
HbVar.1158 commonName Hb Hornchurch
HbVar.1158 ethnic Caucasian
HbVar.1158 phenoCommon Hemoglobin variant
HbVar.1159 protEffect HBA2 34(B14) Phe>Ser
HbVar.1159 commonName Hb Chartres
HbVar.1159 ethnic French Caucasian
HbVar.1159 phenoCommon Hemoglobin variant
HbVar.1160 protEffect HBB 35(B16) Val>Asp
HbVar.1160 commonName Hb Santander
HbVar.1160 ethnic Spanish
HbVar.1160 phenoCommon Hemoglobin variant
HbVar.1163 commonName -114(C->A)Ggamma; the Algerian nd-HPFH
HbVar.1163 ethnic Algerian
HbVar.1163 phenoCommon HPFH thalassemia
HbVar.1163 hap .----++.
HbVar.1164 protEffect HBB 145 (-A); modified C-terminal sequence: (145)Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser- Asn-Phe-(157)Tyr-COOH
HbVar.1164 commonName Hb Trento
HbVar.1164 ethnic Italian
HbVar.1164 phenoCommon Hemoglobin variant
HbVar.1165 protEffect HBB 94(F9) Cys>Tyr
HbVar.1165 commonName Hb Fort Dodge
HbVar.1165 ethnic Caucasian
HbVar.1165 phenoCommon Hemoglobin variant
HbVar.1166 protEffect HBA1 45(CE2) Pro>Ala
HbVar.1166 commonName Hb Hagerstown
HbVar.1166 alias Hb Milne
HbVar.1166 ethnic Italian
HbVar.1166 phenoCommon Hemoglobin variant
HbVar.1167 protEffect HBD 58(E1) Asn>Lys
HbVar.1167 commonName Hb A2-Campania
HbVar.1167 ethnic Italian
HbVar.1167 phenoCommon Hemoglobin variant
HbVar.1168 protEffect HBD 89(F4) Leu>Val
HbVar.1168 commonName Hb A2-Lucania
HbVar.1168 ethnic Italian
HbVar.1168 phenoCommon Hemoglobin variant
HbVar.1169 protEffect HBD 105(G6) Arg>Ser
HbVar.1169 commonName Hb A2-Capri
HbVar.1169 ethnic Italian
HbVar.1169 phenoCommon Hemoglobin variant
HbVar.1170 protEffect HBB 87(F2) Ala>Pro
HbVar.1170 commonName Hb Cardarelli
HbVar.1170 ethnic Italian
HbVar.1170 phenoCommon Hemoglobin variant
HbVar.1171 protEffect HBB 6(A2) Pro>Ala
HbVar.1171 commonName Hb Gorwihl
HbVar.1171 alias Hb Hinchingbrooke
HbVar.1171 ethnic German
HbVar.1171 phenoCommon Hemoglobin variant
HbVar.1172 protEffect HBA2 125(H7) Ser>Pro
HbVar.1172 commonName Hb Policoro
HbVar.1172 ethnic Italian
HbVar.1172 phenoCommon Hemoglobin variant
HbVar.1173 protEffect HBB 7(A3) Glu>Val AND HBB 69(E12) Leu>Phe
HbVar.1173 commonName Hb Jamaica Plain
HbVar.1173 ethnic Puerto Rican
HbVar.1173 phenoCommon Hemoglobin variant
HbVar.1174 protEffect HBA2 140(HC1) Lys>Asn
HbVar.1174 commonName Hb Fukui
HbVar.1174 ethnic Japanese
HbVar.1174 phenoCommon Hemoglobin variant
HbVar.1175 protEffect HBA2 Initiation codon Met>Val
HbVar.1175 commonName alpha2 ATG->GTG
HbVar.1175 ethnic Italian
HbVar.1175 phenoCommon alpha-2 thalassemia
HbVar.1176 protEffect HBA1 24(B4) Glu>Stop
HbVar.1176 commonName alpha1 cd23 GAG->TAG
HbVar.1176 ethnic Italian
HbVar.1176 phenoCommon alpha-1 thalassemia
HbVar.1177 commonName alpha2 +832 G->A
HbVar.1177 ethnic European
HbVar.1177 ethnic Italian
HbVar.1177 phenoCommon Thalassemia
HbVar.1178 commonName alpha1 +22 T->C
HbVar.1178 ethnic Italian
HbVar.1178 phenoCommon alpha-1 thalassemia
HbVar.1179 commonName -76 (A->T) delta0
HbVar.1179 ethnic Italian
HbVar.1179 phenoCommon delta0 thalassemia
HbVar.1180 commonName delta IVSII-6 T->A
HbVar.1180 ethnic Italian
HbVar.1180 phenoCommon delta+ thalassemia
HbVar.1181 protEffect HBB 78(EF1) His>Leu
HbVar.1181 commonName Hb St. Joseph's
HbVar.1181 ethnic Canadian
HbVar.1181 phenoCommon Hemoglobin variant
HbVar.1182 protEffect HBA1 91(FG2) Lys>Arg
HbVar.1182 commonName Hb Clinico Madrid II
HbVar.1182 ethnic Spanish
HbVar.1182 phenoCommon Hemoglobin variant
HbVar.1183 protEffect HBA2 97(G3) Val>Asp
HbVar.1183 commonName Hb El Escorial
HbVar.1183 ethnic Nigerian
HbVar.1183 phenoCommon Hemoglobin variant
HbVar.1184 protEffect Ala-Leu-Thr-Asn- inserted between codons 69(E17) and 70(E18) of HBA1
HbVar.1184 commonName Hb Esch
HbVar.1184 ethnic Portuguese
HbVar.1184 phenoCommon Hemoglobin variant
HbVar.1185 protEffect HBB 60(E3) Lys>Asn
HbVar.1185 commonName Hb J-Lome
HbVar.1185 ethnic African
HbVar.1185 ethnic Japanese
HbVar.1185 ethnic Vietnamese
HbVar.1185 phenoCommon Hemoglobin variant
HbVar.1186 commonName -31 (A->G) delta+
HbVar.1186 ethnic Italian
HbVar.1186 phenoCommon delta+ thalassemia
HbVar.1187 protEffect HBA2 66(E14) Ala>Thr
HbVar.1187 commonName Hb Part-Dieu
HbVar.1187 ethnic French Caucasian
HbVar.1187 phenoCommon Hemoglobin variant
HbVar.1188 protEffect HBA2 70(E18) Ala>Thr
HbVar.1188 commonName Hb Decines-Charpieu
HbVar.1188 ethnic French Caucasian
HbVar.1188 phenoCommon Hemoglobin variant
HbVar.1189 protEffect HBA1 132(H14) Ser>Phe
HbVar.1189 commonName Hb Lusaka
HbVar.1189 ethnic Zambian
HbVar.1189 phenoCommon Hemoglobin variant
HbVar.1190 protEffect HBA2 43(C7) Tyr>His
HbVar.1190 commonName Hb Barika
HbVar.1190 ethnic Algerian
HbVar.1190 phenoCommon Hemoglobin variant
HbVar.1191 protEffect HBB 67(E10) Lys>Asn
HbVar.1191 commonName Hb Ulm
HbVar.1191 ethnic German
HbVar.1191 phenoCommon Hemoglobin variant
HbVar.1192 commonName Poly A (A->C); AATAAA->AATAAC
HbVar.1192 ethnic Surinam
HbVar.1192 phenoCommon alpha-2 thalassemia
HbVar.1194 commonName -30 (T->C); delta+
HbVar.1194 ethnic Greek
HbVar.1194 phenoCommon delta+ thalassemia
HbVar.1196 commonName IVS II-894 (C->T); delta+
HbVar.1196 ethnic Greek
HbVar.1196 phenoCommon delta+ thalassemia
HbVar.1197 commonName IVS-I 3' AG->AC; delta0
HbVar.1197 ethnic Greek
HbVar.1197 phenoCommon delta0 thalassemia
HbVar.1199 protEffect HBA2 60(E8) Gly>Arg
HbVar.1199 commonName Hb Zurich-Albisrieden
HbVar.1199 ethnic Swiss
HbVar.1199 phenoCommon Hemoglobin variant
HbVar.1200 protEffect HBB 117(+TGAT); modified C-terminal sequence: (117)Leu-Ile-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-Thr-
Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-Gly-
Trp-Cys-Gly-(140)COOH
HbVar.1200 commonName Codon 116 (+TGAT)
HbVar.1200 phenoCommon beta0 thalassemia
HbVar.1201 protEffect HBB 104(G5) Phe>Val
HbVar.1201 commonName Hb Sparta
HbVar.1201 ethnic Caucasian
HbVar.1201 phenoCommon Hemoglobin variant
HbVar.1202 protEffect HBB 30(B11) Gly>Ser
HbVar.1202 commonName Hb Tizi-Ouzou
HbVar.1202 ethnic Algerian
HbVar.1202 phenoCommon Hemoglobin variant
HbVar.1203 protEffect HBB 27(B8) Glu>Ala
HbVar.1203 commonName Hb Tripoli
HbVar.1203 ethnic Libyan
HbVar.1203 phenoCommon Hemoglobin variant
HbVar.1204 protEffect HBB 117(G18) His->0 AND Arg-Val-Leu-Ala-His- inserted between 116(G17) and 118(G19) of HBB
HbVar.1204 commonName Hb Antibes-Juan-Les-Pins
HbVar.1204 ethnic French Caucasian
HbVar.1204 phenoCommon Hemoglobin variant
HbVar.1205 protEffect HBA1 94(FG5) Val>Ala
HbVar.1205 commonName Hb Die
HbVar.1205 ethnic French
HbVar.1205 phenoCommon Hemoglobin variant
HbVar.1207 protEffect HBA1 100(G6) Lys>Asn
HbVar.1207 commonName Hb Beziers
HbVar.1207 alias Hb Harlow
HbVar.1207 ethnic French Caucasian
HbVar.1207 phenoCommon Hemoglobin variant
HbVar.1208 protEffect HBG1 137(H14) Ala>Gly
HbVar.1208 commonName Hb F-Charlotte
HbVar.1208 ethnic African-American
HbVar.1208 phenoCommon Hemoglobin variant
HbVar.1209 protEffect HBB 7(A3) Glu>Val AND HBB 91(F6) Glu>Lys
HbVar.1209 commonName Hb S-Cameroon
HbVar.1209 ethnic Cameroonian
HbVar.1209 phenoCommon Hemoglobin variant
HbVar.1210 protEffect HBB 10(A6) Ser>Tyr
HbVar.1210 commonName Hb Brem-sur-Mer
HbVar.1210 ethnic French Caucasian
HbVar.1210 phenoCommon Hemoglobin variant
HbVar.1211 protEffect HBA2 82(F2) Ser>Pro
HbVar.1211 commonName Hb Passy
HbVar.1211 ethnic Turkish
HbVar.1211 phenoCommon Hemoglobin variant
HbVar.1212 protEffect HBD 134(H11) Val>Ala
HbVar.1212 commonName Hb A2-Ninive
HbVar.1212 ethnic Iraqi
HbVar.1212 phenoCommon Hemoglobin variant
HbVar.1213 protEffect HBB 142 (-C); modified C-terminal sequence: (142)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe- Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH
HbVar.1213 commonName Hb Florida
HbVar.1213 ethnic Argentine
HbVar.1213 phenoCommon Thalassemia
HbVar.1214 protEffect HBB 7(A3) Glu>Val AND HBB 133(H10) Lys>Asn
HbVar.1214 commonName Hb S-South End
HbVar.1214 phenoCommon Hemoglobin variant
HbVar.1215 protEffect HBA1 31(B11) Glu>Val
HbVar.1215 commonName Hb Itapira
HbVar.1215 ethnic Brazilian
HbVar.1215 phenoCommon Hemoglobin variant
HbVar.1216 protEffect HBA1 31(B11) Glu>Ala
HbVar.1216 commonName Hb Bom Jesus da Lapa
HbVar.1216 ethnic Brazilian
HbVar.1216 phenoCommon Hemoglobin variant
HbVar.1217 protEffect HBA2 17(A14) Lys>Thr
HbVar.1217 commonName Hb Boa Esperanca
HbVar.1217 ethnic Brazilian
HbVar.1217 phenoCommon Hemoglobin variant
HbVar.1218 protEffect HBG1 137(H14) Ala>Ser
HbVar.1218 commonName Hb F-Porto Torres
HbVar.1218 ethnic Sardinian
HbVar.1218 phenoCommon Hemoglobin variant
HbVar.1219 protEffect HBB 71(E14) Ala>Gly
HbVar.1219 commonName Hb Hershey
HbVar.1219 ethnic Sicilian
HbVar.1219 phenoCommon Hemoglobin variant
HbVar.1220 protEffect HBB 71(E14) Ala>Pro
HbVar.1220 commonName Hb Abington
HbVar.1220 phenoCommon Hemoglobin variant
HbVar.1221 protEffect HBB 119 (-T); modified C-terminal sequence: (119)Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg- Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp- Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys- Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(157)Tyr-COOH
HbVar.1221 commonName Hb Sainte Seve
HbVar.1221 ethnic French Caucasian
HbVar.1221 phenoCommon Thalassemia
HbVar.1222 protEffect HBB 58(E1) Asn>Thr
HbVar.1222 commonName Hb Viseu
HbVar.1222 ethnic Portuguese
HbVar.1222 phenoCommon Hemoglobin variant
HbVar.1223 protEffect HBA2 77(EF5) Met>Ile
HbVar.1223 commonName Hb Hellux
HbVar.1223 ethnic Greek
HbVar.1223 phenoCommon Hemoglobin variant
HbVar.1224 protEffect HBA1 105(G11) Cys>Ser
HbVar.1224 commonName Hb Oegstgeest
HbVar.1224 ethnic Surinam
HbVar.1224 phenoCommon Hemoglobin variant
HbVar.1225 protEffect HBB 95(FG1) Asp>Tyr
HbVar.1225 commonName Hb Geldrop St Anna
HbVar.1225 ethnic Dutch
HbVar.1225 phenoCommon Hemoglobin variant
HbVar.1226 protEffect HBA2 126(H8) Leu>Arg
HbVar.1226 commonName Hb Plasencia
HbVar.1226 ethnic Spanish
HbVar.1226 phenoCommon Hemoglobin variant
HbVar.1227 protEffect HBB 48(CD6) Asp>His
HbVar.1227 commonName Hb Maryland
HbVar.1227 phenoCommon Hemoglobin variant
HbVar.1228 protEffect HBB 38(C3) Trp>Cys
HbVar.1228 commonName Hb Kent
HbVar.1228 phenoCommon Hemoglobin variant
HbVar.1229 protEffect HBB 137(H14) Gly>Cys
HbVar.1229 commonName Hb Visayan
HbVar.1229 ethnic Filipino
HbVar.1229 phenoCommon Hemoglobin variant
HbVar.1230 protEffect HBB 139(H16) Ala>Val
HbVar.1230 commonName Hb Cutlerville
HbVar.1230 ethnic Caucasian
HbVar.1230 phenoCommon Hemoglobin variant
HbVar.1231 protEffect HBB 142(H19) Leu>Val AND HBB 145(HC1) Lys-Tyr-His->0
HbVar.1231 commonName Hb Kochi
HbVar.1231 ethnic Japanese
HbVar.1231 phenoCommon Hemoglobin variant
HbVar.1232 protEffect HBB 24(B5) Val>Ala
HbVar.1232 commonName Hb Zoeterwoude
HbVar.1232 ethnic Dutch
HbVar.1232 phenoCommon Hemoglobin variant
HbVar.1233 protEffect HBA1 52(CE9) Gly>Ser
HbVar.1233 commonName Hb Riccarton
HbVar.1233 ethnic Caucasian
HbVar.1233 phenoCommon Hemoglobin variant
HbVar.1234 protEffect HBB 144(H21) His>Leu
HbVar.1234 commonName Hb Vancleave
HbVar.1234 phenoCommon Hemoglobin variant
HbVar.1235 protEffect HBA2 33(B13) Met>Ile
HbVar.1235 commonName Hb Amsterdam
HbVar.1235 ethnic Surinam
HbVar.1235 phenoCommon Thalassemia
HbVar.1236 protEffect HBB 83(EF6) Lys>Arg
HbVar.1236 commonName Hb Taradale
HbVar.1236 alias Hb Middlesbrough
HbVar.1236 alias Hb Keystone
HbVar.1236 phenoCommon Hemoglobin variant
HbVar.1237 protEffect HBB 138(H15) - 140(H17) Val-Ala-Asn->0 AND inserted Asp
HbVar.1237 commonName Hb Stara Zagora
HbVar.1237 ethnic Bulgarian
HbVar.1237 phenoCommon Thalassemia
HbVar.1238 protEffect HBD 60(E3) Lys>Asn
HbVar.1238 commonName Hb A2-Pasteur-Tunis
HbVar.1238 ethnic Tunisian
HbVar.1238 phenoCommon Hemoglobin variant
HbVar.1239 protEffect HBA1 or HBA2 10(A7) Asn>Thr
HbVar.1239 commonName Hb Broomfield
HbVar.1239 phenoCommon Hemoglobin variant
HbVar.1240 protEffect HBA1 or HBA2 14(A11) Ala>Pro
HbVar.1240 commonName Hb Ravenscourt Park
HbVar.1240 ethnic Jamaican
HbVar.1240 ethnic Cuban
HbVar.1240 phenoCommon Hemoglobin variant
HbVar.1241 protEffect HBA1 or HBA2 28(B8) Glu>Ala
HbVar.1241 commonName Hb Hackney
HbVar.1241 alias Hb Xu Chang
HbVar.1241 phenoCommon Hemoglobin variant
HbVar.1242 protEffect HBA1 or HBA2 39(C3) Thr>Ile
HbVar.1242 commonName Hb Chelsea
HbVar.1242 phenoCommon Hemoglobin variant
HbVar.1243 protEffect HBA1 or HBA2 51(CE8) His>Leu
HbVar.1243 commonName Hb Dublin
HbVar.1243 ethnic Dominican
HbVar.1243 ethnic European
HbVar.1243 phenoCommon Hemoglobin variant
HbVar.1244 protEffect HBA1 or HBA2 77(EF5) Met>Arg
HbVar.1244 commonName Hb Walpole
HbVar.1244 phenoCommon Hemoglobin variant
HbVar.1246 protEffect HBB 7(A3) Glu>Lys AND HBB 84(EF7) Gly>Asp
HbVar.1246 commonName Hb C-New Cross
HbVar.1246 ethnic Nigerian
HbVar.1246 phenoCommon Hemoglobin variant
HbVar.1247 protEffect HBB 102(G3) Glu>Ala
HbVar.1247 commonName Hb Youngstown
HbVar.1247 alias Hb St Mary's
HbVar.1247 phenoCommon Hemoglobin variant
HbVar.1248 protEffect HBD 14(A10) Ala>Asp
HbVar.1248 commonName Hb A2-MUMC
HbVar.1248 alias Hb A2-Corleone
HbVar.1248 ethnic Sicilian
HbVar.1248 phenoCommon Hemoglobin variant
HbVar.1249 protEffect HBB 75(E18) Gly>Ser
HbVar.1249 commonName Hb Kokomo
HbVar.1249 phenoCommon Hemoglobin variant
HbVar.1250 protEffect HBA2 76(EF4) Asp>Val
HbVar.1250 commonName Hb Al-Hammadi Riyadh
HbVar.1250 ethnic Saudi Arabian
HbVar.1250 phenoCommon Hemoglobin variant
HbVar.1251 protEffect HBB 139(H16) Ala>Thr
HbVar.1251 commonName Hb Buzen
HbVar.1251 ethnic Japanese
HbVar.1251 phenoCommon Hemoglobin variant
HbVar.1254 commonName Ti~
HbVar.1254 phenoCommon Thalassemia
HbVar.1255 protEffect HBA2 41(C5) Lys>Gln
HbVar.1255 commonName Hb Linwood
HbVar.1255 phenoCommon Hemoglobin variant
HbVar.1256 protEffect HBB 71(E14) Ala>Val
HbVar.1256 commonName Hb Marineo
HbVar.1256 ethnic Sicilian
HbVar.1256 phenoCommon Hemoglobin variant
HbVar.1257 protEffect HBB 9(A5) Lys>Arg
HbVar.1257 commonName Hb Lucknow
HbVar.1257 ethnic Indian
HbVar.1257 phenoCommon Hemoglobin variant
HbVar.2501 protEffect HBA2 25(B5) Tyr>Asp
HbVar.2501 commonName Hb Creve Coeur
HbVar.2501 ethnic North European
HbVar.2501 phenoCommon Hemoglobin variant
HbVar.2502 protEffect HBA1 69(E17) Asn>His
HbVar.2502 commonName Hb Jeddah
HbVar.2502 ethnic Saudi Arabian
HbVar.2502 ethnic Yemenite
HbVar.2502 phenoCommon Hemoglobin variant
HbVar.2503 protEffect HBA1 131(H13) Ala>Val
HbVar.2503 commonName Hb Westborough
HbVar.2503 ethnic Indian
HbVar.2503 phenoCommon Hemoglobin variant
HbVar.2504 protEffect HBA1 83(F3) - 85(F5) Ala-Leu-Ser->0
HbVar.2504 commonName Codons 82/83/84 del 5bp insertion
HbVar.2504 ethnic Portuguese
HbVar.2504 phenoCommon alpha-1 thalassemia
HbVar.2508 commonName IVS II-761 A>G
HbVar.2508 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2509 commonName 5'UTR; +20 (C>T)
HbVar.2509 phenoCommon Thalassemia
HbVar.2510 protEffect HBB 132 - 133 (-GA); modified C-terminal sequence: (132)Gln-Ser-Gly-Gly-Trp-Cys-(138)Gly-COOH
HbVar.2510 commonName Codons 131/132 (-GA)
HbVar.2510 phenoCommon beta0 thalassemia
HbVar.2511 protEffect HBB 92 (-T); modified C-terminal sequence
HbVar.2511 commonName Hb MorganTown
HbVar.2511 alias beta91 CTG>CG
HbVar.2511 ethnic Irish
HbVar.2511 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2512 commonName Cretan HPFH
HbVar.2512 alias Agamma -158 C>T
HbVar.2512 ethnic Greek
HbVar.2512 phenoCommon HPFH thalassemia
HbVar.2513 commonName Venezuelan nd-HPFH
HbVar.2513 alias Agamma -211 C>T
HbVar.2513 ethnic Black
HbVar.2513 phenoCommon HPFH thalassemia
HbVar.2514 protEffect HBA2 23(B3) Gly>Gly
HbVar.2514 commonName Codon 22 C>T
HbVar.2514 ethnic Surinam
HbVar.2514 phenoCommon alpha-2 thalassemia
HbVar.2515 protEffect HBA1 15(A12) Trp>Stop
HbVar.2515 commonName Codon 14 G>A
HbVar.2515 ethnic Iranian
HbVar.2515 phenoCommon alpha-1 thalassemia
HbVar.2516 protEffect HBA2 19 (-G); modified C-terminal sequence: (19)Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-
Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-
Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH
HbVar.2516 commonName Codon 19 (-G)
HbVar.2516 ethnic Iranian
HbVar.2516 phenoCommon alpha-2 thalassemia
HbVar.2517 commonName -93 C>G
HbVar.2517 ethnic Surinam
HbVar.2517 phenoCommon beta+ thalassemia
HbVar.2518 protEffect HBB 5(A1) Thr>Asn
HbVar.2518 commonName Hb Wurzburg
HbVar.2518 ethnic German
HbVar.2518 phenoCommon Hemoglobin variant
HbVar.2519 protEffect HBA2 104(G10) His>Leu
HbVar.2519 commonName Hb Bronovo
HbVar.2519 ethnic Turkish
HbVar.2519 phenoCommon Hemoglobin variant
HbVar.2520 protEffect HBB 7(A3) Glu>Val AND HBB 38(C3) Trp>Gly
HbVar.2520 commonName Hb C-Ndjamena
HbVar.2520 ethnic Chadian
HbVar.2520 phenoCommon Hemoglobin variant
HbVar.2522 commonName IVS II-2 (T>A)
HbVar.2522 phenoCommon alpha-2 thalassemia
HbVar.2526 protEffect HBG2 21(B2) Val>Ala
HbVar.2526 commonName Hb F-Bron
HbVar.2526 phenoCommon Hemoglobin variant
HbVar.2527 commonName IVS-I-129 (A>G)
HbVar.2527 ethnic German
HbVar.2527 phenoCommon beta0 thalassemia
HbVar.2528 protEffect HBB 60(E3) Lys>Stop
HbVar.2528 commonName Cd59 (AAG>TAG)
HbVar.2528 phenoCommon beta0 thalassemia
HbVar.2529 protEffect HBB 38(C3) Trp>Stop
HbVar.2529 commonName Cd37 (TGG>TAG)
HbVar.2529 ethnic Afghan
HbVar.2529 phenoCommon beta0 thalassemia
HbVar.2529 phenoCommon moderate Splenomegaly
HbVar.2530 protEffect HBB Initiation codon Met>Lys
HbVar.2530 commonName Initiation codon T>A
HbVar.2530 ethnic French Caucasian
HbVar.2530 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2531 protEffect HBA2 24(B4) Glu>Stop
HbVar.2531 commonName Cd23 (GAG>TAG)
HbVar.2531 ethnic Tunisian
HbVar.2531 phenoCommon alpha-2 thalassemia
HbVar.2532 protEffect HBA2 91(FG2) Lys>Stop
HbVar.2532 commonName Cd90 (AAG>TAG)
HbVar.2532 ethnic Macedonian
HbVar.2532 phenoCommon alpha (1 or 2 unclear) thalassemia
HbVar.2533 protEffect HBB 78 (-C); modified C-terminal sequence
HbVar.2533 commonName Cd77/78 (-C)
HbVar.2533 ethnic Mexican
HbVar.2533 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2534 commonName IVS-II-2 (T>A)
HbVar.2534 ethnic Turkish
HbVar.2534 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2535 commonName -25 (G>C)
HbVar.2535 ethnic African-American
HbVar.2535 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2536 commonName -32 (C>T)
HbVar.2536 ethnic Hispanic
HbVar.2536 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2537 commonName -27 (-AA)
HbVar.2537 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2538 protEffect HBB 77 (-GC); modified C-terminal sequence
HbVar.2538 commonName Cd76 (-GC)
HbVar.2538 ethnic North African
HbVar.2538 phenoCommon beta0 thalassemia
HbVar.2539 protEffect HBA2 109(G15) Thr>Asn
HbVar.2539 commonName Hb Bleuland
HbVar.2539 ethnic Surinam
HbVar.2539 phenoCommon Hemoglobin variant
HbVar.2540 protEffect HBB 39(C4) Thr>Ile
HbVar.2540 commonName Hb La Coruna
HbVar.2540 ethnic Spanish
HbVar.2540 phenoCommon Hemoglobin variant
HbVar.2541 protEffect HBA2 5(A2) Pro>His
HbVar.2541 commonName Hb Bellevue
HbVar.2541 phenoCommon Hemoglobin variant
HbVar.2542 protEffect HBB 33(B14) Leu>Gln
HbVar.2542 commonName Hb Clermont Ferrand
HbVar.2542 ethnic Vietnamese
HbVar.2542 phenoCommon Hemoglobin variant
HbVar.2543 protEffect HBB 51(D1) Thr>Ser
HbVar.2543 commonName Hb Zurich-Langstrasse
HbVar.2543 ethnic Sicilian
HbVar.2543 phenoCommon Hemoglobin variant
HbVar.2545 commonName Hb Jambol
HbVar.2545 ethnic Bulgarian
HbVar.2545 phenoCommon Thalassemia
HbVar.2546 protEffect HBB 119(GH1) Phe>Val
HbVar.2546 commonName Hb Sodertalje
HbVar.2546 ethnic Swedish
HbVar.2546 phenoCommon Hemoglobin variant
HbVar.2548 protEffect HBB 133(H10) Lys>Stop
HbVar.2548 commonName Cd132A>T
HbVar.2548 ethnic Ghanaian
HbVar.2548 phenoCommon beta0 thalassemia
HbVar.2550 protEffect HBD 3(NA2) His>Leu
HbVar.2550 commonName Hb A2-Catania
HbVar.2550 ethnic Sicilian
HbVar.2550 phenoCommon Hemoglobin variant
HbVar.2554 protEffect HBD 71(E14) Ala>Gly
HbVar.2554 commonName Hb A2-Ventimiglia
HbVar.2554 ethnic Sicilian
HbVar.2554 phenoCommon Hemoglobin variant
HbVar.2555 protEffect HBD 88(F3) Gln>Lys
HbVar.2555 commonName Hb A2-Montechiaro
HbVar.2555 ethnic Sicilian
HbVar.2555 phenoCommon Hemoglobin variant
HbVar.2556 protEffect HBD 141(H18) Ala>Val
HbVar.2556 commonName Hb A2-Bagheria
HbVar.2556 ethnic Sicilian
HbVar.2556 phenoCommon Hemoglobin variant
HbVar.2557 protEffect HBB 81(EF4) Asn>Tyr
HbVar.2557 commonName Hb Hounslow
HbVar.2557 ethnic Afghan
HbVar.2557 phenoCommon Hemoglobin variant
HbVar.2558 protEffect HBB 85(+GCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGG); modified C-terminal sequence: (85)Ala-His-Gly-Lys-Lys-Val-Leu-Gly-Ala-Phe-Ser-Asp-Gly-Leu-Ala-His-Leu-Asp-Asn-Leu-Lys-Gly-Pro-Leu-Pro-His-(110)COOH
HbVar.2558 commonName Codon 84 (65bp duplication)
HbVar.2558 ethnic African
HbVar.2558 phenoCommon beta0 thalassemia
HbVar.2563 protEffect HBA2 95(G1) Asp>Val
HbVar.2563 commonName Hb Kirksey
HbVar.2563 ethnic Caucasian
HbVar.2563 phenoCommon Hemoglobin variant
HbVar.2565 protEffect HBA2 135(H17) Thr>Ala
HbVar.2565 commonName Hb Brunswick
HbVar.2565 ethnic Caucasian
HbVar.2565 phenoCommon Hemoglobin variant
HbVar.2566 protEffect HBA1 136(H18) Val>Met
HbVar.2566 commonName Hb Trenton
HbVar.2566 phenoCommon Hemoglobin variant
HbVar.2567 protEffect HBA2 139(H21) Ser>Phe
HbVar.2567 commonName Hb Frauenfeld
HbVar.2567 ethnic Caucasian
HbVar.2567 phenoCommon Hemoglobin variant
HbVar.2569 protEffect HBA2 136(H18) Val>Leu
HbVar.2569 commonName Hb Tottenham
HbVar.2569 ethnic British
HbVar.2569 phenoCommon Hemoglobin variant
HbVar.2570 protEffect HBA2 36(B16) Ser>Pro
HbVar.2570 commonName Hb Evora
HbVar.2570 ethnic Portuguese
HbVar.2570 phenoCommon Hemoglobin variant
HbVar.2571 commonName IVS II-726 (A>G)
HbVar.2571 ethnic Moroccan
HbVar.2571 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2571 phenoCommon moderate Splenomegaly
HbVar.2572 commonName IVS I-7 (A>T)
HbVar.2572 ethnic Italian
HbVar.2572 phenoCommon beta+ thalassemia
HbVar.2573 commonName IVS II-2 (T>C)
HbVar.2573 ethnic Indian
HbVar.2573 phenoCommon beta+ thalassemia
HbVar.2574 protEffect HBB 105 (-G); modified C-terminal sequence: (105)Arg-Leu-Leu-Gly-Asn-Val-Leu-Val-Cys-Val-
Leu-Ala-His-His-Phe-Gly-Lys-Glu-Phe-Thr-
Pro-Pro-Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-
Val-Ala-Gly-Val-Ala-Asn-Ala-Leu-Ala-His-
Lys-Tyr-His-(147)COOH
HbVar.2574 commonName Codon 104 (-G)
HbVar.2574 ethnic German
HbVar.2574 phenoCommon beta0 thalassemia
HbVar.2575 protEffect HBA2 50 (-GC); modified C-terminal sequence: (50)Thr-Arg-Leu-Cys-Pro-Gly-(55)COOH
HbVar.2575 commonName Codon 49 (-GC)
HbVar.2575 phenoCommon alpha-2 thalassemia
HbVar.2576 protEffect HBD 8(A4) Glu>Ala
HbVar.2576 commonName Hb A2-Udine
HbVar.2576 ethnic Italian
HbVar.2576 phenoCommon Hemoglobin variant
HbVar.2577 protEffect HBA2 2(NA1) Val>Met
HbVar.2577 commonName Hb A2-Fontanabuona
HbVar.2577 ethnic Italian
HbVar.2577 phenoCommon Hemoglobin variant
HbVar.2578 protEffect HBA1 7(A4) Asp>His
HbVar.2578 commonName Hb Galliera I
HbVar.2578 ethnic Italian
HbVar.2578 phenoCommon Hemoglobin variant
HbVar.2579 protEffect HBA2 7(A4) Asp>His
HbVar.2579 commonName Hb Galliera II
HbVar.2579 ethnic Italian
HbVar.2579 phenoCommon Hemoglobin variant
HbVar.2580 protEffect HBB 7(A3) Glu>Gly
HbVar.2580 commonName Hb Lavagna
HbVar.2580 ethnic Italian
HbVar.2580 phenoCommon Hemoglobin variant
HbVar.2581 protEffect HBA1 60(E8) Gly>Ser
HbVar.2581 commonName Hb Parma
HbVar.2581 ethnic Italian
HbVar.2581 phenoCommon Hemoglobin variant
HbVar.2582 protEffect HBA1 41(C5) Lys>Thr
HbVar.2582 commonName Hb Pisa
HbVar.2582 ethnic Italian
HbVar.2582 phenoCommon Hemoglobin variant
HbVar.2583 protEffect HBB 117(G18) His>Arg
HbVar.2583 commonName Hb Sfax
HbVar.2583 ethnic Tunisian
HbVar.2583 phenoCommon Hemoglobin variant
HbVar.2584 protEffect HBB 87(F2) Ala>Ile
HbVar.2584 commonName Hb Nebraska
HbVar.2584 ethnic Caucasian
HbVar.2584 phenoCommon Hemoglobin variant
HbVar.2585 protEffect HBA1 92(FG3) Leu>Phe
HbVar.2585 commonName Hb Vientiane
HbVar.2585 ethnic Laotian
HbVar.2585 phenoCommon Hemoglobin variant
HbVar.2586 protEffect HBA1 139(H21) Ser>Cys
HbVar.2586 commonName Hb Ecuador
HbVar.2586 phenoCommon Hemoglobin variant
HbVar.2587 protEffect HBA2 15(A12) Trp>Cys
HbVar.2587 commonName Hb Bladensburg
HbVar.2587 ethnic Nigerian
HbVar.2587 phenoCommon Hemoglobin variant
HbVar.2588 protEffect HBB 4(NA3) Leu>Gln
HbVar.2588 commonName Hb Santo Domingo
HbVar.2588 ethnic Dominican
HbVar.2588 phenoCommon Hemoglobin variant
HbVar.2589 protEffect HBB 11(A7) Ala>Thr
HbVar.2589 commonName Hb Belleville
HbVar.2589 phenoCommon Hemoglobin variant
HbVar.2590 protEffect HBB 46(CD4) Phe>Tyr
HbVar.2590 commonName Hb Den Haag
HbVar.2590 ethnic Scandinavian
HbVar.2590 phenoCommon Hemoglobin variant
HbVar.2591 protEffect HBA2 69(E17) Asn>His
HbVar.2591 commonName Hb St. Truiden
HbVar.2591 ethnic Belgian
HbVar.2591 phenoCommon Hemoglobin variant
HbVar.2592 protEffect HBA2 126(H8) Leu>Gln
HbVar.2592 commonName Hb West-Einde
HbVar.2592 ethnic Turkish
HbVar.2592 phenoCommon Hemoglobin variant
HbVar.2594 protEffect HBA1 10(A7) Asn>Ser
HbVar.2594 commonName Hb Anadour
HbVar.2594 ethnic Moroccan
HbVar.2594 phenoCommon Hemoglobin variant
HbVar.2595 protEffect HBA2 37(C1) Phe>Leu
HbVar.2595 commonName Hb Geisinger
HbVar.2595 ethnic African-American
HbVar.2595 phenoCommon Hemoglobin variant
HbVar.2596 protEffect HBA1 71(E19) Val>Met
HbVar.2596 commonName Hb Haaksbergen
HbVar.2596 ethnic Dutch
HbVar.2596 phenoCommon Hemoglobin variant
HbVar.2597 commonName IVS I-1 (G>T)
HbVar.2597 ethnic Italian
HbVar.2597 phenoCommon alpha-2 thalassemia
HbVar.2598 commonName IVS I-5 (G>A)
HbVar.2598 ethnic Ashkenazi Jews
HbVar.2598 phenoCommon alpha-2 thalassemia
HbVar.2600 commonName IVS I-55 G>A
HbVar.2600 ethnic Hindu
HbVar.2600 phenoCommon alpha-2 thalassemia
HbVar.2601 commonName -56 (G>C)
HbVar.2601 ethnic Moroccan
HbVar.2601 phenoCommon Thalassemia
HbVar.2602 commonName IVS II-1 (G>T)
HbVar.2602 ethnic Surinam
HbVar.2602 phenoCommon beta0 thalassemia
HbVar.2603 protEffect HBB 107(G8) Leu>Val
HbVar.2603 commonName Hb L'Aquila
HbVar.2603 ethnic Italian
HbVar.2603 phenoCommon Hemoglobin variant
HbVar.2604 protEffect HBB 57(D7) Gly>Cys
HbVar.2604 commonName Hb Leeds
HbVar.2604 ethnic Pakistani
HbVar.2604 phenoCommon Hemoglobin variant
HbVar.2605 protEffect HBA2 2(NA1) Val>Leu
HbVar.2605 commonName Hb St.Jozef
HbVar.2605 ethnic Moroccan
HbVar.2605 phenoCommon Hemoglobin variant
HbVar.2606 protEffect HBA2 22(B2) Ala>Ser
HbVar.2606 commonName Hb Zoetermeer
HbVar.2606 ethnic Dutch
HbVar.2606 phenoCommon Hemoglobin variant
HbVar.2607 protEffect HBA1 56(E4) Val>Ala
HbVar.2607 commonName Hb Gerland 1
HbVar.2607 ethnic Southeast Asian
HbVar.2607 phenoCommon Hemoglobin variant
HbVar.2608 protEffect HBA1 83(F3) Ala>Thr
HbVar.2608 commonName Hb Hagley Park
HbVar.2608 ethnic New Zealand
HbVar.2608 phenoCommon Hemoglobin variant
HbVar.2609 protEffect HBA1 124(H6) Ala>Pro
HbVar.2609 commonName Hb Voreppe
HbVar.2609 ethnic French Caucasian
HbVar.2609 phenoCommon Thalassemia
HbVar.2610 protEffect HBA2 8(A5) Lys>Arg
HbVar.2610 commonName Hb Guanajuato
HbVar.2610 ethnic Mexican
HbVar.2610 phenoCommon Hemoglobin variant
HbVar.2611 protEffect HBA1 30(B10) Leu>Val
HbVar.2611 commonName Hb Kosovo
HbVar.2611 ethnic Yugoslavian
HbVar.2611 phenoCommon Hemoglobin variant
HbVar.2612 protEffect HBA2 118(GH5) Phe>Ile
HbVar.2612 commonName Hb Ambroise Pare
HbVar.2612 ethnic French Caucasian
HbVar.2612 phenoCommon Hemoglobin variant
HbVar.2613 protEffect HBA1 88(F8) His>Asp
HbVar.2613 commonName Hb Bonn
HbVar.2613 phenoCommon Hemoglobin variant
HbVar.2614 commonName IVS I-5 G>A
HbVar.2614 ethnic African
HbVar.2614 phenoCommon alpha-1 thalassemia
HbVar.2615 protEffect HBD 5(A1) Thr>Ser
HbVar.2615 commonName Hb A2-Acacias
HbVar.2615 ethnic Mediterranean
HbVar.2615 phenoCommon Hemoglobin variant
HbVar.2616 protEffect HBB 85(EF8) Thr>Asn
HbVar.2616 commonName Hb Beaujolais
HbVar.2616 ethnic French Caucasian
HbVar.2616 phenoCommon Hemoglobin variant
HbVar.2617 protEffect HBG2 98(FG4) His>Arg
HbVar.2617 commonName Hb F-Lyon
HbVar.2617 ethnic French Caucasian
HbVar.2617 phenoCommon Hemoglobin variant
HbVar.2618 protEffect HBG2 80(EF3) Asp>His
HbVar.2618 commonName Hb F-Saint-Etienne
HbVar.2618 phenoCommon Hemoglobin variant
HbVar.2619 protEffect HBB 118(G19) His>Asp
HbVar.2619 commonName Hb North York
HbVar.2619 ethnic Iranian
HbVar.2619 phenoCommon Hemoglobin variant
HbVar.2620 protEffect HBA2 44(CE1) Phe>Ile
HbVar.2620 commonName Hb Sens
HbVar.2620 ethnic French Caucasian
HbVar.2620 phenoCommon Hemoglobin variant
HbVar.2621 protEffect HBA2 41(C5) Lys>Asn
HbVar.2621 commonName Hb Villiers le Bel
HbVar.2621 ethnic French Caucasian
HbVar.2621 phenoCommon Hemoglobin variant
HbVar.2622 protEffect HBA1 132 (-T); modified C-terminal sequence: (132)Ser-(132)COOH
HbVar.2622 commonName Hb Fez
HbVar.2622 ethnic Moroccan
HbVar.2622 phenoCommon Hemoglobin variant
HbVar.2623 protEffect HBA1 135 (-C); modified C-terminal sequence: (135)Thr-Cys-(136)COOH
HbVar.2623 commonName Hb Senlis
HbVar.2623 ethnic French Caucasian
HbVar.2623 phenoCommon Hemoglobin variant
HbVar.2624 protEffect HBA2 78(EF6) Pro>Leu
HbVar.2624 commonName Hb Asklipios
HbVar.2624 ethnic Greek
HbVar.2624 phenoCommon Hemoglobin variant
HbVar.2625 protEffect HBD 60(E3) Lys>Met
HbVar.2625 commonName Hb A2-North Africa
HbVar.2625 ethnic Moroccan
HbVar.2625 phenoCommon Hemoglobin variant
HbVar.2626 protEffect HBA1 86(F6) Asp>His
HbVar.2626 commonName Hb Canuts
HbVar.2626 ethnic French Caucasian
HbVar.2626 phenoCommon Hemoglobin variant
HbVar.2627 protEffect HBA2 53(E1) Ser>Phe
HbVar.2627 commonName Hb Essex
HbVar.2627 ethnic British
HbVar.2627 phenoCommon Hemoglobin variant
HbVar.2628 protEffect HBB 53(D3) Asp>Tyr
HbVar.2628 commonName Hb Languidic
HbVar.2628 ethnic French Caucasian
HbVar.2628 phenoCommon Hemoglobin variant
HbVar.2629 protEffect HBG2 103(G4) Asn>Thr
HbVar.2629 commonName Hb F-Sarajevo
HbVar.2629 ethnic Bosnian
HbVar.2629 phenoCommon Hemoglobin variant
HbVar.2631 protEffect HBB 24(B5) Val>Ile
HbVar.2631 commonName Hb Saveh
HbVar.2631 ethnic Iranian
HbVar.2631 phenoCommon Hemoglobin variant
HbVar.2632 protEffect HBA1 138(H20) Thr>Pro
HbVar.2632 commonName Hb Verona
HbVar.2632 ethnic Italian
HbVar.2632 phenoCommon Hemoglobin variant
HbVar.2633 protEffect HBB 148(+TA); modified C-terminal sequence: (148)Tyr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-
Tyr-(158)COOH
HbVar.2633 commonName Hb Monplaisir
HbVar.2633 ethnic Spanish
HbVar.2633 phenoCommon Hemoglobin variant
HbVar.2634 protEffect HBA1 or HBA2 47(CE4) Phe>Val
HbVar.2634 commonName Hb Hillingdon
HbVar.2634 phenoCommon Hemoglobin variant
HbVar.2635 protEffect HBA1 or HBA2 4(A1) Ser>Pro
HbVar.2635 commonName Hb Central Middlesex
HbVar.2635 ethnic British
HbVar.2635 phenoCommon Hemoglobin variant
HbVar.2636 protEffect HBA1 or HBA2 49(CE6) Leu>Pro
HbVar.2636 commonName Hb Reading
HbVar.2636 ethnic British
HbVar.2636 phenoCommon Hemoglobin variant
HbVar.2637 protEffect HBA1 or HBA2 91(FG2) Lys>Glu
HbVar.2637 commonName Hb Sudbury
HbVar.2637 ethnic Asian
HbVar.2637 phenoCommon Hemoglobin variant
HbVar.2638 protEffect HBA1 107(G13) Leu>Pro
HbVar.2638 commonName Hb Charlieu
HbVar.2638 ethnic French Caucasian
HbVar.2638 phenoCommon Hemoglobin variant
HbVar.2639 protEffect HBA1 or HBA2 89(F9) Ala>Glu
HbVar.2639 commonName Hb Wroclaw
HbVar.2639 ethnic Polish
HbVar.2639 phenoCommon Hemoglobin variant
HbVar.2640 protEffect HBA1 or HBA2 99(G5) Phe>Tyr
HbVar.2640 commonName Hb Mill Hill
HbVar.2640 ethnic Black
HbVar.2640 phenoCommon Hemoglobin variant
HbVar.2641 protEffect HBA1 2(NA1) Val>Leu
HbVar.2641 commonName Hb Baldock
HbVar.2641 ethnic British
HbVar.2641 phenoCommon Hemoglobin variant
HbVar.2642 protEffect HBA2 115(GH2) Pro>Thr
HbVar.2642 commonName Hb Jura
HbVar.2642 alias Hb Bamako
HbVar.2642 ethnic French Caucasian
HbVar.2642 ethnic West African
HbVar.2642 phenoCommon Hemoglobin variant
HbVar.2643 protEffect HBA2 5(A2) Pro>Arg
HbVar.2643 commonName Hb Goree
HbVar.2643 ethnic West African
HbVar.2643 phenoCommon Hemoglobin variant
HbVar.2644 protEffect HBB 136(H13) Ala>Val
HbVar.2644 commonName Hb Alperton
HbVar.2644 ethnic Indian
HbVar.2644 phenoCommon Hemoglobin variant
HbVar.2645 protEffect HBA2 85(F5) Ser>Asn
HbVar.2645 commonName Hb Meulan
HbVar.2645 ethnic Sicilian
HbVar.2645 phenoCommon Hemoglobin variant
HbVar.2647 protEffect HBB 134(H11) Val>Met
HbVar.2647 commonName Hb La Pommeraie
HbVar.2647 ethnic French Caucasian
HbVar.2647 phenoCommon Hemoglobin variant
HbVar.2649 protEffect HBA1 75(EF3) Asp>Val
HbVar.2649 commonName Hb Les Lilas
HbVar.2649 ethnic French Caucasian
HbVar.2649 phenoCommon Hemoglobin variant
HbVar.2650 protEffect HBA1 or HBA2 135(H17) Thr>Ser
HbVar.2650 commonName Hb Kenton
HbVar.2650 ethnic Pakistani
HbVar.2650 phenoCommon Hemoglobin variant
HbVar.2651 protEffect HBG1 132(H9) Gln>His
HbVar.2651 commonName Hb F-Oman
HbVar.2651 ethnic Oman
HbVar.2651 phenoCommon Hemoglobin variant
HbVar.2652 protEffect HBG1 23(B4) Asp>Asn
HbVar.2652 commonName Hb F-Beni Khirane
HbVar.2652 ethnic Moroccan
HbVar.2652 phenoCommon Hemoglobin variant
HbVar.2653 protEffect HBG2 102(G3) Glu>Gln
HbVar.2653 commonName Hb F-Zheijang
HbVar.2653 phenoCommon Hemoglobin variant
HbVar.2654 protEffect HBB 41(C6) Arg>Met
HbVar.2654 commonName Hb Taipei-Tien
HbVar.2654 ethnic Taiwanese
HbVar.2654 phenoCommon Hemoglobin variant
HbVar.2656 commonName IVS-II-1(G>A)delta0
HbVar.2656 alias Delta nt494G>A
HbVar.2656 phenoCommon delta0 thalassemia
HbVar.2659 protEffect HBD Initiation codon Met>Ile
HbVar.2659 commonName HBD c.1 G>A
HbVar.2659 alias Delta nt53 G>A
HbVar.2659 ethnic Chinese
HbVar.2659 phenoCommon delta0 thalassemia
HbVar.2661 protEffect HBA2 92(FG3) Leu>Phe
HbVar.2661 commonName Hb Treviso
HbVar.2661 ethnic Italian
HbVar.2661 phenoCommon Hemoglobin variant
HbVar.2662 protEffect HBB 122(GH 5) Phe>Ser
HbVar.2662 commonName Hb Caruaru
HbVar.2662 ethnic Brazilian
HbVar.2662 phenoCommon Hemoglobin variant
HbVar.2663 protEffect HBB 23(B4) - 26(B7) Glu-Val-Gly-Gly->0
HbVar.2663 commonName Hb Olinda
HbVar.2663 ethnic Brazilian
HbVar.2663 phenoCommon Hemoglobin variant
HbVar.2664 protEffect HBB 143 (-CC); modified C-terminal sequence: (143)Ala-Gln-Val-Ser-Leu-Ser-Ser-Leu-Ser-Cys-
Cys-Pro-Ile-Ser-Ile-Lys-Gly-Ser-Phe-Val-
Pro-(163)COOH
HbVar.2664 commonName Hb Uzes
HbVar.2664 ethnic French
HbVar.2664 phenoCommon Hemoglobin variant
HbVar.2665 protEffect HBA1 or HBA2 72(E20) Ala>Thr
HbVar.2665 commonName Hb Hatfield
HbVar.2665 phenoCommon Hemoglobin variant
HbVar.2666 protEffect HBB 44(CD2) Glu>Gly
HbVar.2666 commonName Hb Haringey
HbVar.2666 phenoCommon Hemoglobin variant
HbVar.2667 protEffect HBA1 29(B9) Ala>Val
HbVar.2667 commonName Hb Nedlands
HbVar.2667 ethnic Greek
HbVar.2667 phenoCommon Hemoglobin variant
HbVar.2668 protEffect HBB 7(A3) Glu>Lys AND HBB 99(FG5) Val>Met
HbVar.2668 commonName Hb Kingsbury
HbVar.2668 ethnic African
HbVar.2668 phenoCommon Hemoglobin variant
HbVar.2669 protEffect HBA2 or HBA1 51(CE8) His>Tyr
HbVar.2669 commonName Hb South Yorkshire
HbVar.2669 ethnic British
HbVar.2669 phenoCommon Hemoglobin variant
HbVar.2670 protEffect HBA2 or HBA1 111(G17) Ala>Val
HbVar.2670 commonName Hb White Rose
HbVar.2670 ethnic British
HbVar.2670 phenoCommon Hemoglobin variant
HbVar.2671 protEffect HBA2 or HBA1 115(GH2) Pro>Ala
HbVar.2671 commonName Hb Broomhill
HbVar.2671 ethnic Chinese
HbVar.2671 phenoCommon Hemoglobin variant
HbVar.2672 protEffect HBB 59(E2) Pro>His
HbVar.2672 commonName Hb Sheffield
HbVar.2672 ethnic British
HbVar.2672 ethnic Oman
HbVar.2672 phenoCommon Hemoglobin variant
HbVar.2673 protEffect HBA1 21(B1) His>Gln
HbVar.2673 commonName Hb Brugg
HbVar.2673 ethnic Swiss
HbVar.2673 phenoCommon Hemoglobin variant
HbVar.2674 protEffect HBA1 or HBA2 69(E17) Asn>Tyr
HbVar.2674 commonName Hb Chelmsford
HbVar.2674 phenoCommon Hemoglobin variant
HbVar.2675 protEffect HBA1 or HBA2 39(C3) Thr>Ala
HbVar.2675 commonName Hb Beaconsfield
HbVar.2675 ethnic English
HbVar.2675 phenoCommon Hemoglobin variant
HbVar.2676 protEffect HBD 40(C5) Gln>His
HbVar.2676 commonName Hb A2-Lyon
HbVar.2676 ethnic French
HbVar.2676 phenoCommon Hemoglobin variant
HbVar.2677 protEffect HBB 6(A2) Pro>Leu
HbVar.2677 commonName Hb Aix-les-Bains
HbVar.2677 ethnic Italian
HbVar.2677 phenoCommon Hemoglobin variant
HbVar.2678 protEffect HBA1 116(GH3) Ala>Val
HbVar.2678 commonName Hb Palmela
HbVar.2678 ethnic Portuguese
HbVar.2678 phenoCommon Hemoglobin variant
HbVar.2679 protEffect HBA1 133(H15) Val>Met
HbVar.2679 commonName Hb Portimao
HbVar.2679 ethnic Portuguese
HbVar.2679 phenoCommon Hemoglobin variant
HbVar.2680 protEffect HBD 75(E18) Gly>Asp
HbVar.2680 commonName Hb A2-Asti
HbVar.2680 ethnic Italian
HbVar.2680 phenoCommon Hemoglobin variant
HbVar.2681 protEffect HBD 8(A4) Glu>Asp
HbVar.2681 commonName Hb A2-Pordenone
HbVar.2681 ethnic Italian
HbVar.2681 phenoCommon Hemoglobin variant
HbVar.2682 protEffect HBB 5(A1) Thr>Pro
HbVar.2682 commonName Hb Benin City
HbVar.2682 ethnic Nigerian
HbVar.2682 phenoCommon Hemoglobin variant
HbVar.2683 protEffect HBB 4(NA3) Leu>Met
HbVar.2683 commonName Hb Niguarda
HbVar.2683 ethnic Italian
HbVar.2683 phenoCommon Hemoglobin variant
HbVar.2685 protEffect HBD 3(NA2) His>Asn
HbVar.2685 commonName Hb A2 codon 2 (CAT->AAT)
HbVar.2685 phenoCommon Hemoglobin variant
HbVar.2686 protEffect HBD 53(D3) Asp>His
HbVar.2686 commonName Hb A2 codon 52 (GAT>CAT)
HbVar.2686 phenoCommon Hemoglobin variant
HbVar.2688 protEffect HBD 82(EF5) Leu>Phe
HbVar.2688 commonName Hb A2 Saint-Denis
HbVar.2688 ethnic Chinese
HbVar.2688 phenoCommon Hemoglobin variant
HbVar.2690 protEffect HBB 23(B4) Glu>Asp
HbVar.2690 commonName Hb beta codon 22 (GAA>GAT)
HbVar.2690 phenoCommon Hemoglobin variant
HbVar.2691 protEffect HBB 36(C1) Tyr>His
HbVar.2691 commonName Hb beta codon 35 (TAC>CAC)
HbVar.2691 phenoCommon Hemoglobin variant
HbVar.2692 protEffect HBB 43(CD1) Phe>Cys
HbVar.2692 commonName Hb beta codon 42 (TTT>TGT)
HbVar.2692 phenoCommon Hemoglobin variant
HbVar.2693 protEffect HBB 58(E1) Asn>Ser
HbVar.2693 commonName Hb beta codon 57 (AAC>AGC)
HbVar.2693 phenoCommon Hemoglobin variant
HbVar.2694 protEffect HBB 119(GH1) Phe>Ser
HbVar.2694 commonName Hb beta codon 118 (TTT>TCT)
HbVar.2694 phenoCommon Hemoglobin variant
HbVar.2695 protEffect HBA2 71(E19) Val>Gly
HbVar.2695 commonName Hb alpha2 codon 70 (GTG>GGG)
HbVar.2695 phenoCommon Hemoglobin variant
HbVar.2696 protEffect HBA1 87(F7) Leu>Val
HbVar.2696 commonName Hb alpha1 codon 86 (CTG>GTG)
HbVar.2696 phenoCommon Hemoglobin variant
HbVar.2697 protEffect HBA2 117(GH4) Glu>Val
HbVar.2697 commonName Hb alpha2 codon 116 (GAG>GTG)
HbVar.2697 phenoCommon Hemoglobin variant
HbVar.2698 protEffect HBA2 128(H10) Lys>Glu
HbVar.2698 commonName Hb alpha2 codon 127 (AAG-GAG)
HbVar.2698 phenoCommon Hemoglobin variant
HbVar.2700 commonName -88 (C>G)
HbVar.2700 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2701 commonName -71 (C>T)
HbVar.2701 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2702 commonName -30 T>G
HbVar.2702 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2703 commonName Codon 5/6 (-TG)
HbVar.2703 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2705 protEffect HBB 74(+T); modified C-terminal sequence: (74)stop codon
HbVar.2705 commonName Codon 72/73 (+T)
HbVar.2705 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2706 commonName IVS2-2 (-TGAGTCTATGGG)
HbVar.2706 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2707 commonName IVS2-781 C>G
HbVar.2707 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2708 commonName A Gamma -197 C>T
HbVar.2708 phenoCommon HPFH thalassemia
HbVar.2709 commonName G Gamma -197 C>T
HbVar.2709 phenoCommon HPFH thalassemia
HbVar.2710 commonName -50 G>A
HbVar.2710 phenoCommon beta+ thalassemia
HbVar.2711 commonName -26 A>C
HbVar.2711 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2713 protEffect HBB 107(G8) - 110(G11) Leu-Gly-Asn-Val->0
HbVar.2713 commonName Codon 106 (-CTGGGCAACGTG)
HbVar.2713 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2714 protEffect HBB 116(+TGTGCTG); modified C-terminal sequence: (116)Cys-Ala-Gly-Pro-Ser-Leu-Trp-Gln-Arg-Ile-His-Pro-
Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(141)COOH
HbVar.2714 commonName Codon 114 (+TGTGCTG)
HbVar.2714 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2715 protEffect HBB 118 (-C); modified C-terminal sequence: (118)His-Leu-Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-
Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-
Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-
Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-(157)COOH
HbVar.2715 commonName Codon 117 (-C)
HbVar.2715 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2716 protEffect HBB 126(H3) - 127(H4) Pro-Val->0
HbVar.2716 commonName Codon 125 (-CCAGTG)
HbVar.2716 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2717 protEffect HBB 131(H8) Tyr>Stop
HbVar.2717 commonName Codon 130 (TAT->TAA)
HbVar.2717 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2718 protEffect HBB 132(+A); modified C-terminal sequence: (132)Gln-Glu-Ser-Gly-Gly-Trp-Cys-Gly-(139)COOH
HbVar.2718 commonName Codon 131 (+A)
HbVar.2718 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2720 commonName Poly A (A->T) AATAAA>AATATA
HbVar.2720 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2721 commonName Poly A (-AA)
HbVar.2721 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2722 commonName alpha1 Poly A (AATAAAG->AATAAAA)
HbVar.2722 phenoCommon alpha-1 thalassemia
HbVar.2723 protEffect HBA1 105(G11) Cys>Trp
HbVar.2723 commonName alpha1 Codon 104 (TGC>TGG) [Cys>Trp]
HbVar.2723 phenoCommon alpha-1 thalassemia
HbVar.2724 protEffect HBA1 109 (-C); modified C-terminal sequence: (109)Thr-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-Ser-
Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-Ser-
Ser-Trp-Leu-Leu-(132)COOH
HbVar.2724 commonName alpha1 Codon 108 (-C)
HbVar.2724 phenoCommon alpha-1 thalassemia
HbVar.2725 commonName alpha1 Codon 124-128 (-13bp)
HbVar.2725 phenoCommon alpha-1 thalassemia
HbVar.2726 protEffect HBA2 38 (-C); modified C-terminal sequence
HbVar.2726 commonName alpha2 Codon 37 (-C)
HbVar.2726 phenoCommon alpha-2 thalassemia
HbVar.2727 protEffect HBA2 23(+T); modified C-terminal sequence: (23)Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-Gly-Glu-
Asp-Val-Pro-Val-Leu-Pro-His-His-Gln-Asp-
Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-Pro-Arg-
Leu-Cys-Pro-Gly-(56)COOH
HbVar.2727 commonName alpha2 Codon 21/22 (+T)
HbVar.2727 phenoCommon alpha-2 thalassemia
HbVar.2728 protEffect HBA2 48 (-A); modified C-terminal sequence: (48)Ala-(48)COOH
HbVar.2728 commonName alpha2 Codon 47 (-A)
HbVar.2728 phenoCommon alpha-2 thalassemia
HbVar.2729 protEffect HBA2 53(+G); modified C-terminal sequence: (53)Val-Cys-Pro-Gly-(56)COOH
HbVar.2729 commonName alpha2 Codon 51/52 (+G)
HbVar.2729 phenoCommon alpha-2 thalassemia
HbVar.2730 protEffect HBA2 64(E12) - 77(EF5) Ala-Asp-Ala-Leu-Thr-Asn-Ala-Val-Ala-His-Val-Asp-Asp-Met->0
HbVar.2730 commonName alpha2 Codon 63-76 (-42bp)
HbVar.2730 phenoCommon alpha-2 thalassemia
HbVar.2731 commonName hg19 chr16:g.(?_103625)_(163701_193676)del
HbVar.2731 alias deletion of HS-40 region
HbVar.2731 phenoCommon alpha (1 or 2 unclear) thalassemia
HbVar.2732 protEffect HBA2 102(G8) Leu>Pro
HbVar.2732 commonName alpha2 Codon 101 (CTA>CCA)
HbVar.2732 phenoCommon alpha-2 thalassemia
HbVar.2733 protEffect HBB 31(B12) Arg>Arg
HbVar.2733 commonName Codon 30 A>C [IVSI (-2)
HbVar.2733 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2734 protEffect HBA2 32(B12) Arg>Lys
HbVar.2734 commonName alpha2 Codon 31 (AGG>AAG)
HbVar.2734 phenoCommon alpha-2 thalassemia
HbVar.2735 protEffect HBB 126(+A); modified C-terminal sequence: (126)Thr-Ser-Ala-Gly-Cys-Leu-Ser-Glu-Ser-Gly-
Gly-Trp-Cys-Gly-(139)COOH
HbVar.2735 commonName Codon 124/125(+A)
HbVar.2735 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2736 protEffect HBA1 63 (-G); modified C-terminal sequence: (63)Val-Pro-Thr-Arg-(66)COOH
HbVar.2736 commonName Codon 62 (-G)
HbVar.2736 phenoCommon alpha-1 thalassemia
HbVar.2737 protEffect HBA2 15(A12) Trp>Leu
HbVar.2737 commonName Hb Codon 14 (TGG>TTG)
HbVar.2737 phenoCommon alpha-2 thalassemia
HbVar.2738 commonName Afghan deletion beta0 (909 bp del)
HbVar.2738 phenoCommon beta0 thalassemia
HbVar.2740 protEffect HBD 145(HC1) Lys>Thr
HbVar.2740 commonName Hb A2-San Floro
HbVar.2740 ethnic Italian
HbVar.2740 phenoCommon Hemoglobin variant
HbVar.2741 protEffect HBA2 98(G4) Asn>Asp
HbVar.2741 commonName Hb Cheektowaga
HbVar.2741 ethnic Polish
HbVar.2741 phenoCommon Hemoglobin variant
HbVar.2742 protEffect HBA2 22(B2) Ala>Val
HbVar.2742 commonName Hb Venetia
HbVar.2742 ethnic American
HbVar.2742 phenoCommon Hemoglobin variant
HbVar.2743 protEffect Leu- inserted between codons 3(NA2) and 4(A1) of HBA1
HbVar.2743 commonName Hb Pittsburgh
HbVar.2743 ethnic American
HbVar.2743 phenoCommon Hemoglobin variant
HbVar.2744 protEffect HBA1 19(A16) Gly>Cys
HbVar.2744 commonName Hb Lima
HbVar.2744 phenoCommon Hemoglobin variant
HbVar.2746 protEffect HBD 91(F6) Glu>Gly
HbVar.2746 commonName Hb A2-India
HbVar.2746 ethnic Indian
HbVar.2746 phenoCommon Hemoglobin variant
HbVar.2747 protEffect HBA2 86(F6) Asp>Gly
HbVar.2747 commonName Hb Benton
HbVar.2747 ethnic Caucasian
HbVar.2747 phenoCommon Hemoglobin variant
HbVar.2748 protEffect HBA2 123(H5) His>Leu
HbVar.2748 commonName Hb Dubai
HbVar.2748 ethnic United Arab Emirates
HbVar.2748 phenoCommon Hemoglobin variant
HbVar.2749 protEffect HBA1 111(G17) Ala>Val
HbVar.2749 commonName Hb Montluel
HbVar.2749 alias Hb White Rose
HbVar.2749 ethnic French Caucasian
HbVar.2749 phenoCommon Hemoglobin variant
HbVar.2750 protEffect HBA2 25(B5) Tyr>Stop
HbVar.2750 commonName Codon 24 (T>G)
HbVar.2750 ethnic African-American
HbVar.2750 phenoCommon alpha-2 thalassemia
HbVar.2751 protEffect HBA1 97(G3) Val>Leu
HbVar.2751 commonName Hb Woodstock
HbVar.2751 ethnic Caucasian
HbVar.2751 phenoCommon Hemoglobin variant
HbVar.2752 protEffect HBA1 72(E20) Ala>Val
HbVar.2752 commonName Hb Allison Park
HbVar.2752 ethnic Caucasian
HbVar.2752 phenoCommon Hemoglobin variant
HbVar.2753 protEffect HBB 4(NA3) Leu>Pro
HbVar.2753 commonName Hb Jabalpur
HbVar.2753 ethnic Pakistani
HbVar.2753 phenoCommon Hemoglobin variant
HbVar.2754 protEffect HBA2 113(G19) His>Tyr
HbVar.2754 commonName Hb Kansas City
HbVar.2754 ethnic Caucasian
HbVar.2754 phenoCommon Hemoglobin variant
HbVar.2756 protEffect HBA2 3(NA2) Leu>Pro
HbVar.2756 commonName Hb Kaiser West End
HbVar.2756 ethnic Caucasian
HbVar.2756 phenoCommon Hemoglobin variant
HbVar.2757 protEffect HBA2 64(E12) Ala>Val
HbVar.2757 commonName Hb Aberystwyth
HbVar.2757 alias Hb Nakhon Ratchsima
HbVar.2757 ethnic Thai
HbVar.2757 phenoCommon Hemoglobin variant
HbVar.2758 protEffect HBD 120(GH2) Gly>Asp
HbVar.2758 commonName Hb A2-Lewisburg
HbVar.2758 ethnic Italian
HbVar.2758 phenoCommon Hemoglobin variant
HbVar.2759 protEffect HBA2 88(F8) His>Gln
HbVar.2759 commonName Hb Lansing
HbVar.2759 ethnic African-American
HbVar.2759 ethnic Caucasian
HbVar.2759 ethnic Mexican
HbVar.2759 phenoCommon Hemoglobin variant
HbVar.2760 protEffect HBB 145(HC1) Lys-Tyr-His->0
HbVar.2760 commonName Hb Cambridge-MA
HbVar.2760 ethnic Caucasian
HbVar.2760 ethnic German
HbVar.2760 phenoCommon Hemoglobin variant
HbVar.2761 protEffect HBA1 16(A13) Gly>Cys
HbVar.2761 commonName Hb St. Rose
HbVar.2761 ethnic Indian
HbVar.2761 ethnic Pakistani
HbVar.2761 phenoCommon Hemoglobin variant
HbVar.2762 protEffect HBA2 113(G19) His>Asn
HbVar.2762 commonName Hb Royal Oak
HbVar.2762 ethnic Caucasian
HbVar.2762 ethnic Northern European
HbVar.2762 phenoCommon Hemoglobin variant
HbVar.2763 protEffect HBA2 89(F9) Ala>Thr
HbVar.2763 commonName Hb Voorhees
HbVar.2763 ethnic Caucasian
HbVar.2763 ethnic European
HbVar.2763 phenoCommon Hemoglobin variant
HbVar.2764 protEffect HBA2 24(B4) Glu>Ala
HbVar.2764 commonName Hb Dayton
HbVar.2764 ethnic African-American
HbVar.2764 phenoCommon Hemoglobin variant
HbVar.2765 protEffect HBA2 116(GH3) Ala->0
HbVar.2765 commonName Hb Towson
HbVar.2765 ethnic Caucasian
HbVar.2765 ethnic Northern European
HbVar.2765 phenoCommon Hemoglobin variant
HbVar.2766 protEffect HBA2 100(G6) Lys>Asn
HbVar.2766 commonName Hb Fulton
HbVar.2766 ethnic African-American
HbVar.2766 phenoCommon Hemoglobin variant
HbVar.2768 protEffect HBA2 4(A1) Ser>Cys
HbVar.2768 commonName Hb Teterboro
HbVar.2768 ethnic African-American
HbVar.2768 phenoCommon Hemoglobin variant
HbVar.2769 protEffect HBA2 87(F7) Leu>Val
HbVar.2769 commonName Hb Ridgewood
HbVar.2769 phenoCommon Hemoglobin variant
HbVar.2770 protEffect HBB 27(B8) Glu>Gln
HbVar.2770 commonName Hb King's Mill
HbVar.2770 phenoCommon Hemoglobin variant
HbVar.2771 protEffect HBA2 38(C2) Pro>Ser
HbVar.2771 commonName Hb Boskoop
HbVar.2771 phenoCommon Hemoglobin variant
HbVar.2772 protEffect HBB 17(A13) Gly>Cys
HbVar.2772 commonName Hb Whitmire
HbVar.2772 ethnic African-American
HbVar.2772 phenoCommon Hemoglobin variant
HbVar.2775 protEffect HBA2 97(G3) Val>Ile
HbVar.2775 commonName Hb El Salvador
HbVar.2775 ethnic Hispanic
HbVar.2775 phenoCommon Hemoglobin variant
HbVar.2776 protEffect HBA2 31(B11) Glu->0
HbVar.2776 commonName Alpha2 Codon 30 del GAG
HbVar.2776 ethnic Caucasian
HbVar.2776 ethnic European
HbVar.2776 phenoCommon alpha-2 thalassemia
HbVar.2777 protEffect HBD 83(EF6) Lys>Stop
HbVar.2777 commonName Codon 82 (AAG->TAG) delta0
HbVar.2777 ethnic Indonesian
HbVar.2777 phenoCommon delta (0 or + unclear) thalassemia
HbVar.2778 commonName IVS I-45 G>C
HbVar.2778 phenoCommon alpha-1 thalassemia
HbVar.2779 protEffect HBA2 47(CE4) Phe>Ser
HbVar.2779 commonName Hb Lake Tapawingo
HbVar.2779 ethnic Caucasian
HbVar.2779 phenoCommon Hemoglobin variant
HbVar.2780 protEffect HBA1 113(G19) His>Gln
HbVar.2780 commonName Hb West Allis
HbVar.2780 ethnic African-American
HbVar.2780 phenoCommon Hemoglobin variant
HbVar.2781 protEffect HBD 7(A3) Glu>Gln
HbVar.2781 commonName Hb A2-Ramallah
HbVar.2781 phenoCommon Hemoglobin variant
HbVar.2782 protEffect HBB 7(A3) Glu>Val AND HBB 106(G7) Leu>Pro
HbVar.2782 commonName Hb S-San Martin
HbVar.2782 ethnic Argentine
HbVar.2782 phenoCommon Hemoglobin variant
HbVar.2783 protEffect HBA1 15(A12) Trp>Leu
HbVar.2783 commonName Hb Basel
HbVar.2783 ethnic Portuguese
HbVar.2783 phenoCommon Hemoglobin variant
HbVar.2784 protEffect HBA1 33(B13) Met>Lys
HbVar.2784 commonName Hb Queens Park
HbVar.2784 ethnic Australian
HbVar.2784 phenoCommon Hemoglobin variant
HbVar.2785 protEffect HBB 7(A3) Glu>Val AND HBB 9(A5) Lys>Thr
HbVar.2785 commonName Hb S-Clichy
HbVar.2785 phenoCommon Hemoglobin variant
HbVar.2788 protEffect HBG1 120(GH2) Gly>Ser
HbVar.2788 commonName Hb F-Osilo
HbVar.2788 phenoCommon Hemoglobin variant
HbVar.2790 protEffect HBG2 81(EF4) Asp>Tyr
HbVar.2790 commonName Hb F-Paulinia
HbVar.2790 phenoCommon Hemoglobin variant
HbVar.2791 protEffect HBB 8(A4) Glu>Asp
HbVar.2791 commonName Hb Stockholm
HbVar.2791 phenoCommon Hemoglobin variant
HbVar.2792 protEffect HBA2 8(A5) Lys>Gln
HbVar.2792 commonName Hb J-Brainerd
HbVar.2792 ethnic Scandinavian
HbVar.2792 phenoCommon Hemoglobin variant
HbVar.2794 protEffect HBA2 8(A5) Lys>Thr
HbVar.2794 commonName Hb Nayarit
HbVar.2794 ethnic Mexican
HbVar.2794 phenoCommon Hemoglobin variant
HbVar.2795 protEffect HBA1 43(C7) Tyr>Ser
HbVar.2795 commonName Hb Erzeroum
HbVar.2795 ethnic Turkish
HbVar.2795 phenoCommon Hemoglobin variant
HbVar.2796 protEffect HBA1 14(A11) Ala>Thr
HbVar.2796 commonName Hb Olivet
HbVar.2796 ethnic French
HbVar.2796 phenoCommon Hemoglobin variant
HbVar.2797 protEffect HBB 81(EF4) Asn>His
HbVar.2797 commonName Hb East Timor
HbVar.2797 phenoCommon Hemoglobin variant
HbVar.2798 protEffect HBB 68(E11) Val>Met AND HBB 42(C7) Phe>Leu
HbVar.2798 commonName Hb Brevedent
HbVar.2798 ethnic French
HbVar.2798 phenoCommon Hemoglobin variant
HbVar.2800 protEffect HBA1 21(+T); modified C-terminal sequence: (21)His-Arg-Trp-Arg-Val-Trp-Cys-Gly-Gly-Pro-
Gly-Glu-Asp-Val-Pro-Val-Leu-Pro-His-His-
Gln-Asp-Leu-Leu-Pro-Ala-Leu-Arg-Pro-Glu-
Pro-Arg-Leu-Cys-Pro-Gly-(56)COOH
HbVar.2800 commonName Hb alpha1 codon20(+T)
HbVar.2800 ethnic French
HbVar.2800 phenoCommon Thalassemia
HbVar.2801 protEffect HBA2 91(FG2) Lys>Gln
HbVar.2801 commonName Hb Bergerac
HbVar.2801 ethnic French Caucasian
HbVar.2801 phenoCommon Hemoglobin variant
HbVar.2802 protEffect HBB 135(H12) Val>Gly
HbVar.2802 commonName Hb Olupona
HbVar.2802 ethnic Nigerian
HbVar.2802 phenoCommon Hemoglobin variant
HbVar.2803 protEffect HBA2 90(FG1) His>Gln
HbVar.2803 commonName Hb Enfield
HbVar.2803 ethnic African
HbVar.2803 phenoCommon Hemoglobin variant
HbVar.2804 protEffect HBB 81(EF4) Asn>Asp
HbVar.2804 commonName Hb Valley park
HbVar.2804 ethnic Caucasian
HbVar.2804 phenoCommon Hemoglobin variant
HbVar.2806 protEffect HBD 144(H21) His>Tyr
HbVar.2806 commonName Hb Noah Mehmet Oeztuerk
HbVar.2806 ethnic Turkish
HbVar.2806 phenoCommon Hemoglobin variant
HbVar.2807 protEffect Ggamma-beta hybrid (HBG2 through 14; HBB from 21)
HbVar.2807 commonName Hb Ulsan
HbVar.2807 ethnic Korean
HbVar.2807 phenoCommon Hemoglobin variant
HbVar.2808 protEffect HBB 40 (-A); modified C-terminal sequence: (40)Arg-Gly-Ser-Leu-Ser-Pro-Leu-Gly-Ile-Cys-
Pro-Leu-Leu-Met-Leu-Leu-Trp-Ala-Thr-Leu-
Arg-(60)COOH
HbVar.2808 commonName Codon 39 (-A)
HbVar.2808 phenoCommon beta0 thalassemia
HbVar.2809 protEffect HBG2 147(HC3) His>Arg
HbVar.2809 commonName Hb F-Istambul
HbVar.2809 ethnic Turkish
HbVar.2809 phenoCommon Hemoglobin variant
HbVar.2810 protEffect HBG2 94(F9) Cys>Arg
HbVar.2810 commonName Hb F-Monserrato-Sassari
HbVar.2810 ethnic Sardinian
HbVar.2810 phenoCommon Hemoglobin variant
HbVar.2811 protEffect HBG1 122(GH4) Glu>Val
HbVar.2811 commonName Hb F-Salamanque
HbVar.2811 ethnic Spanish
HbVar.2811 phenoCommon Hemoglobin variant
HbVar.2812 protEffect HBA1 or HBA2 55(E3) Gln>His
HbVar.2812 commonName Hb PRINCES RISBOROUGH
HbVar.2812 ethnic Asian
HbVar.2812 phenoCommon Hemoglobin variant
HbVar.2813 protEffect HBA1 or HBA2 86(F6) Asp>Glu
HbVar.2813 commonName Hb AYLESBURY
HbVar.2813 phenoCommon Hemoglobin variant
HbVar.2814 protEffect HBB 101(G2) Pro>Thr
HbVar.2814 commonName Hb Bellevue II
HbVar.2814 ethnic African-American
HbVar.2814 phenoCommon Hemoglobin variant
HbVar.2815 protEffect HBB 8(A4) Glu>Gln
HbVar.2815 commonName Hb Bellevue III
HbVar.2815 alias Hb Vellore
HbVar.2815 ethnic African-American
HbVar.2815 phenoCommon Hemoglobin variant
HbVar.2816 protEffect HBB 73(E16) Ser>Thr
HbVar.2816 commonName Hb PHIMAI
HbVar.2816 phenoCommon Hemoglobin variant
HbVar.2817 protEffect HBA1 32(B12) Arg>Thr
HbVar.2817 commonName Hb Mao
HbVar.2817 ethnic Italian
HbVar.2817 phenoCommon Hemoglobin variant
HbVar.2818 protEffect HBB 27(B8) Glu>Asp
HbVar.2818 commonName Hb Marijampole
HbVar.2818 phenoCommon Hemoglobin variant
HbVar.2819 protEffect HBB 106(G7) Leu>Pro
HbVar.2819 commonName Hb Bellevue IV
HbVar.2819 ethnic Hispanic
HbVar.2819 phenoCommon Hemoglobin variant
HbVar.2820 protEffect HBB 78(EF1) His>Asn
HbVar.2820 commonName Hb Heilbronn
HbVar.2820 ethnic German
HbVar.2820 phenoCommon Hemoglobin variant
HbVar.2822 protEffect HBB 105(G6) Arg>Gly
HbVar.2822 commonName Hb Nimes
HbVar.2822 ethnic French Caucasian
HbVar.2822 phenoCommon Hemoglobin variant
HbVar.2823 protEffect HBB 49 - 56 (-TCCACTCCTGATGCTGTTA); modified C-terminal sequence AND HBB 50(+AGCT); modified C-terminal sequence
HbVar.2823 commonName Hb Martinez
HbVar.2823 ethnic American Indian
HbVar.2823 ethnic Caucasian
HbVar.2823 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2825 protEffect HBA1 127(H9) Asp>Ala
HbVar.2825 commonName Hb Verdun
HbVar.2825 ethnic French Caucasian
HbVar.2825 phenoCommon Hemoglobin variant
HbVar.2826 protEffect HBA2 60(E8) Gly>Ser
HbVar.2826 commonName Hb Parma [A2]
HbVar.2826 ethnic Portuguese
HbVar.2826 phenoCommon Hemoglobin variant
HbVar.2827 protEffect HBB 120(GH2) Gly>Arg
HbVar.2827 commonName Hb Angouleme
HbVar.2827 ethnic French Caucasian
HbVar.2827 phenoCommon Hemoglobin variant
HbVar.2828 protEffect HBB 105(G6) Arg>Met
HbVar.2828 commonName Hb Bad Salzuflen
HbVar.2828 ethnic German
HbVar.2828 phenoCommon Hemoglobin variant
HbVar.2829 protEffect HBB 116(G17) Ala>Val
HbVar.2829 commonName Hb Roma
HbVar.2829 ethnic Italian
HbVar.2829 phenoCommon Hemoglobin variant
HbVar.2830 protEffect HBB 101(G2) Pro>Ser
HbVar.2830 commonName Hb Niort
HbVar.2830 ethnic French
HbVar.2830 phenoCommon Hemoglobin variant
HbVar.2832 protEffect HBA2 108 (-T); modified C-terminal sequence: (108)Gly-Pro-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser-
Ser-Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr-
Ser-Ser-Trp-Leu-Leu-(132)COOH
HbVar.2832 commonName Hb Lynwood
HbVar.2832 ethnic Sudanese
HbVar.2832 phenoCommon Hemoglobin variant
HbVar.2833 protEffect HBD 30(B11) Gly>Asp
HbVar.2833 commonName Hb A2 Hong Kong
HbVar.2833 phenoCommon Hemoglobin variant
HbVar.2834 protEffect HBA2 23(B3) - 26(B6) Gly-Glu-Tyr-Gly->0 AND inserted Gly
HbVar.2834 commonName Hb Zhanjiang
HbVar.2834 ethnic Chinese
HbVar.2834 phenoCommon Hemoglobin variant
HbVar.2835 protEffect HBB 90(F5) Ser>Arg
HbVar.2835 commonName Hb Vanderbilt II
HbVar.2835 phenoCommon Hemoglobin variant
HbVar.2836 protEffect HBB 7(A3) Glu>Val AND HBB 66(E9) Lys>Glu
HbVar.2836 commonName Hb S-Sao Paulo
HbVar.2836 ethnic Brazilian
HbVar.2836 phenoCommon Hemoglobin variant
HbVar.2837 protEffect HBB 94(F9) Cys>Trp
HbVar.2837 commonName Hb Santa Giusta Sardegna
HbVar.2837 phenoCommon Hemoglobin variant
HbVar.2838 protEffect HBB 94(F9) Cys>Ser
HbVar.2838 commonName Hb Riesa
HbVar.2838 phenoCommon Hemoglobin variant
HbVar.2839 protEffect HBB 82(EF5) Leu>Phe
HbVar.2839 commonName Hb Seville
HbVar.2839 ethnic Spanish
HbVar.2839 phenoCommon Hemoglobin variant
HbVar.2840 protEffect HBA2 64(E12) Ala>Val
HbVar.2840 commonName Hb Nakhon Ratchasima
HbVar.2840 alias Hb Aberystwyth
HbVar.2840 phenoCommon Hemoglobin variant
HbVar.2841 protEffect HBA2 9 (-C); modified C-terminal sequence: (9)Thr-Thr-Ser-Arg-Pro-Pro-Gly-Val-Arg-Ser-
Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-
Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-
Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(49)COOH
HbVar.2841 commonName Hb Codon 8 (-C); ACC (Thr)>AC- Alpha0
HbVar.2841 phenoCommon Thalassemia
HbVar.2842 protEffect HBB 99(FG5) Val>Leu
HbVar.2842 commonName Hb Phou Bia
HbVar.2842 ethnic Laotian
HbVar.2842 phenoCommon Hemoglobin variant
HbVar.2843 protEffect HBA1 101(G7) Leu>Pro
HbVar.2843 commonName Hb Corsica
HbVar.2843 ethnic Caucasian
HbVar.2843 ethnic Mediterranean
HbVar.2843 phenoCommon Hemoglobin variant
HbVar.2844 protEffect HBA1 or HBA2 125(H7) Ser>Phe
HbVar.2844 commonName Hb Batley
HbVar.2844 ethnic Pakistani
HbVar.2844 phenoCommon Hemoglobin variant
HbVar.2845 protEffect HBA2 132(H14) Ser>Cys
HbVar.2845 commonName Hb Cap-d'Agde
HbVar.2845 ethnic Caucasian
HbVar.2845 phenoCommon Hemoglobin variant
HbVar.2846 protEffect OR HBB 81(EF4) Asn->0
HbVar.2846 commonName Hb Saint-Chamond
HbVar.2846 ethnic Mediterranean
HbVar.2846 phenoCommon Hemoglobin variant
HbVar.2847 protEffect HBA2 86(F6) Asp>His
HbVar.2847 commonName Hb Canuts [A2]
HbVar.2847 phenoCommon Hemoglobin variant
HbVar.2848 protEffect HBD 23(B4) Ala>Lys
HbVar.2848 commonName Hb A2-Marseille
HbVar.2848 ethnic Armenian
HbVar.2848 phenoCommon Hemoglobin variant
HbVar.2849 protEffect HBD 15(A11) Leu>Pro
HbVar.2849 commonName Hb A2-Saint-Etienne
HbVar.2849 ethnic Turkish
HbVar.2849 phenoCommon delta+ thalassemia
HbVar.2850 protEffect HBG2 2(NA1) Gly>Ser
HbVar.2850 commonName Hb F-Montchat
HbVar.2850 ethnic African
HbVar.2850 phenoCommon Hemoglobin variant
HbVar.2851 protEffect HBG2 137(H14) Gly>Glu
HbVar.2851 commonName Hb F-Privas
HbVar.2851 ethnic Caucasian
HbVar.2851 phenoCommon Hemoglobin variant
HbVar.2853 protEffect HBA1 126(H8) Leu>Pro
HbVar.2853 commonName Hb Quong Sze II
HbVar.2853 ethnic Caucasian
HbVar.2853 phenoCommon Thalassemia
HbVar.2854 protEffect HBA2 44 (-T); modified C-terminal sequence
HbVar.2854 commonName Codon 43 (-T)
HbVar.2854 ethnic African
HbVar.2854 phenoCommon alpha-2 thalassemia
HbVar.2855 protEffect HBG1 92(F7) Leu>Arg
HbVar.2855 commonName Hb F-Moyen-Orient
HbVar.2855 phenoCommon Hemoglobin variant
HbVar.2856 protEffect HBB 39(C4) Thr>Ser
HbVar.2856 commonName Hb Grove City
HbVar.2856 ethnic Caucasian
HbVar.2856 phenoCommon Hemoglobin variant
HbVar.2857 protEffect HBB 26(B7) Gly>Ser
HbVar.2857 commonName Hb Brazzaville
HbVar.2857 ethnic Congolese
HbVar.2857 phenoCommon Hemoglobin variant
HbVar.2858 protEffect HBG1 126(H3) Glu>Ala
HbVar.2858 commonName Hb F-Port-Royal II
HbVar.2858 ethnic African
HbVar.2858 phenoCommon Hemoglobin variant
HbVar.2859 protEffect HBB 87(F2) Ala>Val
HbVar.2859 commonName Hb Izmir
HbVar.2859 phenoCommon Hemoglobin variant
HbVar.2860 protEffect HBB 121 (-A); modified C-terminal sequence
HbVar.2860 commonName Hb Filottrano
HbVar.2860 phenoCommon Hemoglobin variant
HbVar.2861 protEffect HBA1 65(E13) Asp>Ala
HbVar.2861 commonName Hb Lucan
HbVar.2861 ethnic Polish
HbVar.2861 phenoCommon Hemoglobin variant
HbVar.2862 protEffect HBB 64(E7) His>Leu
HbVar.2862 commonName Hb Temple Street
HbVar.2862 ethnic Polish
HbVar.2862 phenoCommon Hemoglobin variant
HbVar.2863 protEffect HBA2 124(H6) Ala>Val
HbVar.2863 commonName Hb Pressath
HbVar.2863 ethnic German
HbVar.2863 phenoCommon Hemoglobin variant
HbVar.2864 protEffect HBA2 52(CE9) Gly>Ser
HbVar.2864 commonName Hb Riccarton - II
HbVar.2864 ethnic French
HbVar.2864 phenoCommon Hemoglobin variant
HbVar.2865 protEffect HBG2 106(G7) Leu>His
HbVar.2865 commonName Hb F-Feldkirch
HbVar.2865 alias HbF-Brugine
HbVar.2865 ethnic Austrian
HbVar.2865 phenoCommon Hemoglobin variant
HbVar.2866 protEffect HBA2 Initiation codon Met>Arg
HbVar.2866 commonName alpha2 ATG>AGG
HbVar.2866 ethnic Iranian
HbVar.2866 phenoCommon alpha-2 thalassemia
HbVar.2867 protEffect HBA2 116 - 120 (-GAGTTCACCCC); modified C-terminal sequence
HbVar.2867 commonName HBA2:c.349_359delGAGTTCACCCC
HbVar.2867 ethnic Pakistani
HbVar.2867 phenoCommon alpha-2 thalassemia
HbVar.2869 protEffect HBA1 100(G6) Lys>Met
HbVar.2869 commonName HBA1:c.301-2A>T
HbVar.2869 ethnic Argentine
HbVar.2869 phenoCommon alpha-2 thalassemia
HbVar.2870 commonName HBB:c.20_45del26
HbVar.2870 ethnic Indian
HbVar.2870 phenoCommon beta0 thalassemia
HbVar.2870 hap ------++
HbVar.2871 protEffect HBA2 or HBA1 32 (-AG); modified C-terminal sequence
HbVar.2871 commonName Alpha-3.7KbAllele:c.94_95delAG
HbVar.2871 ethnic African-American
HbVar.2871 phenoCommon alpha-1 thalassemia
HbVar.2872 commonName Algerian HPFH deletion
HbVar.2872 ethnic Algerian
HbVar.2872 phenoCommon HPFH thalassemia
HbVar.2873 commonName French HPFH deletion
HbVar.2873 ethnic French
HbVar.2873 phenoCommon HPFH thalassemia
HbVar.2874 commonName French West-Indies HPFH deletion
HbVar.2874 ethnic French West Indies
HbVar.2874 phenoCommon HPFH thalassemia
HbVar.2875 commonName Kabylian deletion-insertion
HbVar.2875 phenoCommon beta0 thalassemia
HbVar.2879 commonName -125 bp deletion
HbVar.2879 phenoCommon beta0 thalassemia
HbVar.2880 commonName -7719 bp del
HbVar.2880 phenoCommon beta0 thalassemia
HbVar.2881 protEffect HBA2 105(G11) Cys>Arg
HbVar.2881 commonName Hb Iberia
HbVar.2881 ethnic Spanish
HbVar.2881 phenoCommon alpha-2 thalassemia
HbVar.2882 protEffect HBD 144(H21) His>Asp
HbVar.2882 commonName Hb A2-Leuven
HbVar.2882 ethnic Belgian
HbVar.2882 phenoCommon Hemoglobin variant
HbVar.2883 protEffect HBB 79(EF2) Leu>Val
HbVar.2883 commonName Hb Ullevaal
HbVar.2883 ethnic Bosnian
HbVar.2883 phenoCommon Hemoglobin variant
HbVar.2885 protEffect HBB 43(CD1) Phe>Ile
HbVar.2885 commonName Hb Oslo
HbVar.2885 ethnic Norwegian
HbVar.2885 phenoCommon Hemoglobin variant
HbVar.2886 protEffect HBB 72 (-T); modified C-terminal sequence: (72)Leu-Val-Met-Ala-Trp-Leu-Thr-Trp-Thr-Thr-
Ser-Arg-Ala-Pro-Leu-Pro-His-(88)COOH
HbVar.2886 commonName HBB:c.216delT
HbVar.2886 ethnic Greek
HbVar.2886 phenoCommon beta0 thalassemia
HbVar.2887 commonName 3'UTR +101 G>C
HbVar.2887 ethnic Pakistani
HbVar.2887 phenoCommon Thalassemia
HbVar.2888 protEffect HBB 16(A12) Trp>Cys
HbVar.2888 commonName Hb Garston
HbVar.2888 ethnic British
HbVar.2888 phenoCommon Hemoglobin variant
HbVar.2889 protEffect HBA2 20 (-G); modified C-terminal sequence: (20)Ala-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg-Pro-
Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro-Pro-
Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH
HbVar.2889 commonName HBA2:c.60delG
HbVar.2889 alias Codon20(-G)
HbVar.2889 ethnic Iraqi
HbVar.2889 phenoCommon alpha-2 thalassemia
HbVar.2890 commonName NG_000007.3:g.(63154-63209)-(70570-70625)del7417
HbVar.2890 alias Senegalese delta0beta+-thalassemia
HbVar.2890 ethnic Mediterranean
HbVar.2890 phenoCommon (delta-beta)0 thalassemia
HbVar.2891 protEffect HBA2 100(G6) Lys>Gln
HbVar.2891 commonName Hb Burkina Fassa
HbVar.2891 ethnic African-American
HbVar.2891 phenoCommon Hemoglobin variant
HbVar.2892 commonName IVS-II-765 L1
HbVar.2892 ethnic Ukrainian
HbVar.2892 phenoCommon beta+ thalassemia
HbVar.2893 protEffect HBA1 or HBA2 53(E1) Ser>Ala
HbVar.2893 commonName Hb Cheshire
HbVar.2893 phenoCommon Hemoglobin variant
HbVar.2895 protEffect HBA2 100(G6) Lys>Arg
HbVar.2895 commonName Hb PAPANUI
HbVar.2895 ethnic New Zealand
HbVar.2895 phenoCommon Hemoglobin variant
HbVar.2897 protEffect HBD 47(CD5) Gly>Glu
HbVar.2897 commonName Hb A2-Tunis
HbVar.2897 ethnic Tunisian
HbVar.2897 phenoCommon Hemoglobin variant
HbVar.2898 protEffect HBB 142(H19) Leu>Val
HbVar.2898 commonName Hb Aurillac
HbVar.2898 alias Codon 141 (C->G) CTG-GTG
HbVar.2898 ethnic Caucasian
HbVar.2898 phenoCommon Hemoglobin variant
HbVar.2899 commonName IVSI-116 A>G (alpha 1)
HbVar.2899 ethnic Iranian
HbVar.2899 phenoCommon alpha-2 thalassemia
HbVar.2900 commonName IVSI-4 A>G (alpha 1)
HbVar.2900 ethnic Iranian
HbVar.2900 phenoCommon alpha-2 thalassemia
HbVar.2901 protEffect HBA1 100(G6) Lys>Stop
HbVar.2901 commonName Codon 99 Lys>Stop (alpha 1)
HbVar.2901 ethnic Iranian
HbVar.2901 phenoCommon alpha-2 thalassemia
HbVar.2902 protEffect HBA1 45(+C); modified C-terminal sequence: (45)Pro-Ala-Leu-Arg-Pro-Glu-Pro-Arg-Leu-Cys-
Pro-Gly-(56)COOH
HbVar.2902 commonName Codon 44 (+C) (Alpha 1)
HbVar.2902 ethnic Iranian
HbVar.2902 phenoCommon alpha-2 thalassemia
HbVar.2903 protEffect HBA2 8(A5) Lys>Stop
HbVar.2903 commonName Codon 7 Lys>Stop (Alpha 2)
HbVar.2903 ethnic Iranian
HbVar.2903 phenoCommon alpha-2 thalassemia
HbVar.2904 protEffect HBB 93(F8) His>Gln AND HBB 94(F9) Cys>Ser
HbVar.2904 commonName Hb Vall d'Hebron
HbVar.2904 ethnic Caucasian
HbVar.2904 ethnic Spanish
HbVar.2904 phenoCommon Hemoglobin variant
HbVar.2905 protEffect HBA2 92(FG3) Leu>Ile
HbVar.2905 commonName Hb Zara
HbVar.2905 ethnic Caucasian
HbVar.2905 ethnic Croatian
HbVar.2905 phenoCommon Hemoglobin variant
HbVar.2906 protEffect HBG2 65(E8) Gly>Asp
HbVar.2906 commonName Hb F-Turritana
HbVar.2906 ethnic Caucasian
HbVar.2906 ethnic Italian
HbVar.2906 phenoCommon Hemoglobin variant
HbVar.2908 protEffect HBA1 63(E11) Val>Ala
HbVar.2908 commonName Codon 62 (GTG>GCG, Val>Ala) (alpha1)
HbVar.2908 ethnic Chinese
HbVar.2908 phenoCommon alpha-2 thalassemia
HbVar.2909 commonName 203 bp deletion (HBA2 exon 3)
HbVar.2909 ethnic Lebanese
HbVar.2909 phenoCommon alpha-2 thalassemia
HbVar.2910 protEffect HBB 63(+GCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGG); modified C-terminal sequence: (63)Ala-His-Gly-Lys-Lys-Val-Leu-Gly-Ala-Phe-Ser-Asp-Gly-Leu-Ala-His-Leu-Asp-Asn-Leu-Lys-Gly-Leu-Met-Ala-Arg-Lys-Cys-Ser-Val-Pro-
Leu-Val-Met-Ala-Trp-Leu-Thr-Trp-Thr-Thr-
Ser-Arg-Ala-Pro-Leu-Pro-His-(110)COOH
HbVar.2910 commonName HBB:c.187_251dup
HbVar.2910 phenoCommon beta0 thalassemia
HbVar.2911 protEffect HBB 102(G3) Glu>Val
HbVar.2911 commonName Hb Belfort
HbVar.2911 ethnic Caucasian
HbVar.2911 phenoCommon Hemoglobin variant
HbVar.2914 protEffect HBD 51(D1) Ser>Thr
HbVar.2914 commonName Hb Konz
HbVar.2914 ethnic German
HbVar.2914 phenoCommon Hemoglobin variant
HbVar.2915 protEffect HBG2 42(C7) Phe>Leu
HbVar.2915 commonName Hb F-Avellino
HbVar.2915 ethnic Italian
HbVar.2915 phenoCommon Hemoglobin variant
HbVar.2916 protEffect HBG2 38(C3) Trp>Gly
HbVar.2916 commonName Hb F-Cobb II
HbVar.2916 ethnic French Caucasian
HbVar.2916 phenoCommon Hemoglobin variant
HbVar.2918 protEffect HBA1 or HBA2 55(E3) Gln>Pro
HbVar.2918 commonName Hb Dhaka
HbVar.2918 phenoCommon Hemoglobin variant
HbVar.2919 commonName IVS-II-897 A>G ; delta0
HbVar.2919 phenoCommon delta0 thalassemia
HbVar.2920 protEffect HBA2 59(E7) His>Gln
HbVar.2920 commonName Hb Flurlingen
HbVar.2920 ethnic African
HbVar.2920 phenoCommon Hemoglobin variant
HbVar.2921 commonName Qinzhou type deletion; Alpha-thal 2
HbVar.2921 ethnic Chinese
HbVar.2921 phenoCommon alpha-2 thalassemia
HbVar.2922 protEffect HBD 91(F6) Glu>Lys
HbVar.2922 commonName Hb A2-Canebiere
HbVar.2922 ethnic Caucasian
HbVar.2922 phenoCommon Hemoglobin variant
HbVar.2923 protEffect HBD 80(EF3) Asp>Gly
HbVar.2923 commonName Hb A2-Turkish
HbVar.2923 ethnic Turkish
HbVar.2923 phenoCommon Hemoglobin variant
HbVar.2924 protEffect HBB 74(E17) Asp>Phe
HbVar.2924 commonName Hb Meylan
HbVar.2924 ethnic French Caucasian
HbVar.2924 phenoCommon Hemoglobin variant
HbVar.2925 commonName 1992 bp deletion (HS3 region - HBB Locus Control Region)
HbVar.2925 ethnic Spanish
HbVar.2925 phenoCommon Thalassemia
HbVar.2926 protEffect HBA2 130 (-C); modified C-terminal sequence
HbVar.2926 commonName Hb Hamilton Hill
HbVar.2926 phenoCommon Hemoglobin variant
HbVar.2927 commonName HBA2:c.-24A>G
HbVar.2927 ethnic Caucasian
HbVar.2927 ethnic Moroccan
HbVar.2927 ethnic Tunisian
HbVar.2927 phenoCommon Thalassemia
HbVar.2928 protEffect HBB 8(+AGAA); modified C-terminal sequence: (8)Glu-Glu-Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-
Gln-Gly-Glu-Arg-Gly-(23)COOH
HbVar.2928 commonName Codons 8/9 (+AGAA)
HbVar.2928 ethnic French Caucasian
HbVar.2928 phenoCommon beta0 thalassemia
HbVar.2930 commonName IVSII-74 T>G
HbVar.2930 phenoCommon Thalassemia
HbVar.2930 phenoCommon Normal
HbVar.2931 protEffect HBG2 68(E11) Val>Met
HbVar.2931 commonName Hb F-Heuried
HbVar.2931 alias Hb Toms River
HbVar.2931 phenoCommon Hemoglobin variant
HbVar.2932 protEffect HBB 113(G14) Cys>Gly
HbVar.2932 commonName Hb Saint-Marcellin
HbVar.2932 ethnic Caucasian
HbVar.2932 phenoCommon Hemoglobin variant
HbVar.2933 protEffect HBA2 14(A11) - 15(A12) Ala-Trp->0
HbVar.2933 commonName Hb Souli
HbVar.2933 ethnic Greek
HbVar.2933 phenoCommon alpha-2 thalassemia
HbVar.2934 protEffect HBA2 15(A12) Trp>Stop
HbVar.2934 commonName Alpha-2 codon 14 G>A (Trp>Stop)
HbVar.2934 ethnic Southeast Asian
HbVar.2934 phenoCommon alpha-2 thalassemia
HbVar.2936 protEffect HBB 30(B11) Gly>Arg
HbVar.2936 commonName Hb Dompierre
HbVar.2936 ethnic French
HbVar.2936 phenoCommon Hemoglobin variant
HbVar.2937 protEffect Lys-Val-Leu- inserted between codons 69(E12) and 70(E13) of HBB
HbVar.2937 commonName Hb Bronx
HbVar.2937 phenoCommon Hemoglobin variant
HbVar.2938 protEffect HBA2 143, Stop>Leu; modified C-terminal sequence: (143)Leu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(173)Glu-COOH
HbVar.2938 commonName Hb Kinshasa
HbVar.2938 ethnic Congolese
HbVar.2938 phenoCommon Hemoglobin variant
HbVar.2939 protEffect HBA2 115(+CC); modified C-terminal sequence: (115)Pro-Pro-Pro-Ser-Ser-Pro-Leu-Arg-Cys-Thr-
Pro-Pro-Trp-Thr-Ser-Ser-Trp-Leu-Leu-(133)COOH
HbVar.2939 commonName alpha2 Codon 115 (+CC)
HbVar.2939 ethnic Greek
HbVar.2939 phenoCommon alpha-2 thalassemia
HbVar.2940 protEffect HBA1 65(E13) Asp>Asn
HbVar.2940 commonName Hb Wadenswil
HbVar.2940 ethnic Egyptian
HbVar.2940 phenoCommon Hemoglobin variant
HbVar.2942 protEffect HBA1 51(CE8) His->0 AND Arg-Ser-His- inserted between 50(CE7) and 52(CE9) of HBA1
HbVar.2942 commonName Hb Bakersfield
HbVar.2942 phenoCommon Hemoglobin variant
HbVar.2943 protEffect HBA2 128(H10) Lys>Arg
HbVar.2943 commonName Hb Longview
HbVar.2943 ethnic African-American
HbVar.2943 phenoCommon Hemoglobin variant
HbVar.2944 protEffect HBB 46(CD4) Phe>Val
HbVar.2944 commonName Hb Duc Pho
HbVar.2944 ethnic Malasian
HbVar.2944 phenoCommon Hemoglobin variant
HbVar.2946 commonName IVSI-129 (A>C)
HbVar.2946 ethnic Indian
HbVar.2946 phenoCommon beta (0 or + unclear) thalassemia
HbVar.2947 protEffect HBA1 104(G10) His>Asp
HbVar.2947 commonName Hb Illinois
HbVar.2947 ethnic Caucasian
HbVar.2947 phenoCommon Hemoglobin variant
HbVar.2948 protEffect HBB 78(EF1) His>Pro
HbVar.2948 commonName Hb Brooklyn
HbVar.2948 phenoCommon Hemoglobin variant
HbVar.2949 protEffect HBB 84(EF7) Gly>Ser
HbVar.2949 commonName Hb Basking Ridge
HbVar.2949 phenoCommon Hemoglobin variant
HbVar.2951 protEffect HBA2 49(CE6) - 55(E3) Leu-Ser-His-Gly-Ser-Ala-Gln->0 AND inserted Gln
HbVar.2951 commonName Hb Fenton
HbVar.2951 phenoCommon Hemoglobin variant
HbVar.2952 commonName Hb SKMC
HbVar.2952 ethnic United Arab Emirates
HbVar.2952 phenoCommon Hemoglobin variant
HbVar.2953 protEffect HBA2 138(H20) - 139(H21) Thr-Ser->0 AND inserted Thr AND Ser- inserted between codons 138(H20) and 139(H21) of HBA2
HbVar.2953 commonName Hb Pohnpei
HbVar.2953 phenoCommon Hemoglobin variant
HbVar.2954 protEffect HBA2 46(CE3) His>Gln AND HBA2 58(E6) Gly>Arg
HbVar.2954 commonName Hb Blythe Boulevard
HbVar.2954 ethnic Caucasian
HbVar.2954 phenoCommon Hemoglobin variant
HbVar.2955 protEffect HBB 3(NA2) His>Asn
HbVar.2955 commonName Hb Franklin Park
HbVar.2955 ethnic African-American
HbVar.2955 phenoCommon Hemoglobin variant
HbVar.2956 protEffect HBA1 63 (-G); modified C-terminal sequence
HbVar.2956 commonName Hb Champaign
HbVar.2956 ethnic African-American
HbVar.2956 ethnic American Indian
HbVar.2956 phenoCommon Hemoglobin variant
HbVar.2957 protEffect HBB 13(A9) Thr>Ile
HbVar.2957 commonName Hb William-Harvey
HbVar.2957 ethnic English
HbVar.2957 phenoCommon Hemoglobin variant
HbVar.2958 protEffect HBB 41(C6) Arg>Thr
HbVar.2958 commonName Hb Alcorn County
HbVar.2958 ethnic American Indian
HbVar.2958 ethnic Irish
HbVar.2958 phenoCommon Hemoglobin variant
HbVar.2959 protEffect HBB 96(FG2) Lys>Gln
HbVar.2959 commonName Hb J-Valencia
HbVar.2959 ethnic German
HbVar.2959 ethnic Guinean
HbVar.2959 ethnic Spanish
HbVar.2959 phenoCommon Hemoglobin variant
HbVar.2961 commonName African I duplication
HbVar.2961 ethnic African
HbVar.2961 ethnic Black
HbVar.2961 phenoCommon Thalassemia
HbVar.2962 commonName beta -176(C>T)
HbVar.2962 ethnic Indian
HbVar.2962 phenoCommon Thalassemia
HbVar.2963 protEffect HBA2 119(H1) Thr>Ile
HbVar.2963 commonName Hb Cervantes
HbVar.2963 ethnic Spanish
HbVar.2963 phenoCommon alpha-2 thalassemia
HbVar.2964 protEffect HBA2 32(B12) Arg>Gly
HbVar.2964 commonName Hb Maranon
HbVar.2964 ethnic Indian
HbVar.2964 phenoCommon alpha-2 thalassemia
HbVar.2965 protEffect HBA2 92(FG3) Leu>Arg
HbVar.2965 commonName Hb La Mancha
HbVar.2965 ethnic Spanish
HbVar.2965 phenoCommon Hemoglobin variant
HbVar.2966 protEffect HBA2 47(CE4) Phe>Ile
HbVar.2966 commonName Hb Brigante
HbVar.2966 ethnic British
HbVar.2966 phenoCommon Hemoglobin variant
HbVar.2968 protEffect HBA2 50(CE7) - 58(E6) Ser-His-Gly-Ser-Ala-Gln-Val-Lys-Gly->0 AND inserted Ser
HbVar.2968 commonName Hb Goya
HbVar.2968 phenoCommon Hemoglobin variant
HbVar.2969 protEffect HBA2 92(FG3) Leu>His
HbVar.2969 commonName Hb Kalavasos
HbVar.2969 ethnic Cypriot
HbVar.2969 phenoCommon Hemoglobin variant
HbVar.2970 commonName IVS-I-117 G>A - Alpha2
HbVar.2970 phenoCommon alpha-2 thalassemia