LOVD - Variant listings for HBG1

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-?/? 1 HBG1:c.-114C>G - - - - HBG1_01966 - rare variant Akinbami AO et al.; Protein Amino AGamma -61C>G 1 -
+?/? 1 HBG1:c.-167C>T - - - - HBG1_00662 HbVar HPFH (OMIM 0031);dbSNP;Oner R et al.; DNA SEQ -114 (C->T) Agamma; the Georgia nd-HPFH 1 D013789
+?/? 1 HBG1:c.-167_-155delCAATAGCCTTGAC - - - - HBG1_00663 HbVar HPFH dbSNP;Gilman JG et al.; DNA SEQ The 13 bp deletion (-CAATAGCCTTGAC at -114 through -102); HPFH 1 D013789
+?/? 1 HBG1:c.-170G>A - - - - HBG1_00660 HbVar HPFH (OMIM 0026);dbSNP;Camaschella C et al.;Ottolenghi S et al.;Superti-Furga G et al.;Gelinas R et al.; DNA SEQ -117 (G->A) Agamma; the Greek-Italian nd-HPFH 1 D013789
+?/? 1 HBG1:c.-170G>A - - - - HBG1_00661 HbVar HPFH Huang HJ et al.; DNA SEQ -117 (G->A) Agamma; the Black-Greek nd-HPFH 1 D013789
+?/? 1 HBG1:c.-211C>T - - - - HBG1_00667 HbVar HPFH dbSNP;Patrinos GP et al.; DNA SEQ Cretan HPFH 1 D013789
+?/? 1 HBG1:c.-228T>C - - - - HBG1_00659 HbVar HPFH dbSNP;Coleman MB et al.;Stoming TA et al.; DNA SEQ -175 (T->C) Agamma; the Black nd-HPFH 1 D013789
+?/? 1 HBG1:c.-248C>G - - - - HBG1_00658 HbVar HPFH (OMIM 0030);dbSNP;Costa FF et al.; DNA SEQ -195 (C->G) Agamma; the Brazilian nd-HPFH 1 D013789
+?/? 1 HBG1:c.-249C>T - - - - HBG1_00657 HbVar HPFH (OMIM 0027);dbSNP;Giglioni B et al.; DNA SEQ -196 (C->T) Agamma; the Italian nd-HPFH 1 D013789
+?/? 1 HBG1:c.-250C>T - - - - HBG1_01651 HbVar HPFH dbSNP;Barnaby C (E-6612-2010); Protein Amino A Gamma -197 C>T 1 D013789
+?/? 1 HBG1:c.-251T>C - - - - HBG1_00656 HbVar HPFH (OMIM 0028);dbSNP;Harvey MP et al.;Donald JA et al.;Tate VE et al.;Weatherall DJ et al.; DNA SEQ -198 (T->C) Agamma; the British nd-HPFH 1 D013789
+?/? 1 HBG1:c.-255C>T - - - - HBG1_00655 HbVar HPFH dbSNP;Gilman JG et al.;Hattori Y et al.; DNA SEQ -202 (C->T) Agamma; nd-HPFH 1 D013789
+?/? 1 HBG1:c.-264C>T - - - - HBG1_00668 HbVar HPFH dbSNP; DNA SEQ Venezuelan nd-HPFH 1 D013789
+?/? 1 HBG1:c.16G>A - p.Glu6Lys - - HBG1_00626 HbVar Hb variants (OMIM 0020);dbSNP;SwissVar VAR_003125;Keitt AS et al.;Ahern EJ et al.;Jenkins GC et al.; Protein Amino Hb F-Texas-I 1 C055794
+?/? 1 HBG1:c.19G>A - p.Glu7Lys - - HBG1_00646 HbVar Hb variants dbSNP;dbSNP;Larkin IL et al.; Protein Amino Hb F-Texas-II 1 C055794
+?/? 1 HBG1:c.19G>C - p.Glu7Gln - - HBG1_00628 HbVar Hb variants (OMIM 0017);dbSNP;SwissVar VAR_003128;Nakatsuji T et al.; Protein Amino Hb F-Pordenone 1 C036393
+?/? 1 HBG1:c.20A>G - p.Glu7Gly - - HBG1_00627 HbVar Hb variants (OMIM 0012);dbSNP;SwissVar VAR_003127;Wada Y et al.;Yoshinaka H et al.; Protein Amino Hb F-Kotobuki 1 C034308
+?/? 1 HBG1:c.38C>A - p.Thr13Lys - - HBG1_00647 HbVar Hb variants dbSNP;dbSNP;Loukopoulos D et al.;Vella F et al.; Protein Amino Hb F-Alexandra 1 D006455
+?/? 1 HBG1:c.38C>G - p.Thr13Arg - - HBG1_00629 HbVar Hb variants (OMIM 0005);dbSNP;SwissVar VAR_003130;Nakatsuji T et al.; Protein Amino Hb F-Calluna 1 C040491
+?/? 1 HBG1:c.50G>A - p.Gly17Asp - - HBG1_01990 - Hb variants Cui J et al.; Protein Amino Hb F-Chori-I 1 -
+?/? 1 HBG1:c.67G>A - p.Asp23Asn - - HBG1_01590 HbVar Hb variants dbSNP;Francina A (E-3974-2010);Joly P (E-4142-2010); DNA SEQ Hb F-Beni Khirane 1 D006455
+?/? 1 HBG1:c.68A>G - p.Asp23Gly - - HBG1_00630 HbVar Hb variants (OMIM 0015);dbSNP;SwissVar VAR_003135;Luan Eng LI et al.; Protein Amino Hb F-Kuala Lumpur 1 D006455
+?/? 1 HBG1:c.70_72delGCT - - - - HBG1_00649 HbVar Hb variants dbSNP;Wajcman H et al.; Protein Amino Hb F-Mauritius 1 D006455
+?/? 1 HBG1:c.76G>C - p.Gly26Arg - - HBG1_00650 HbVar Hb variants (OMIM 0022);dbSNP;SwissVar VAR_003138;Hu H et al.; Protein Amino Hb F-Xinjiang 1 D006455
+?/? 1 HBG1:c.89G>A - p.Gly30Glu - - HBG1_01991 - Hb variants Cui J et al.; Protein Amino Hb F-Chori-II 1 -
+?/? 1 HBG1:c.9T>G - p.His3Gln - - HBG1_00625 HbVar Hb variants (OMIM 0035);dbSNP;SwissVar VAR_003124;Plaseska D et al.; Protein Amino Hb F-Macedonia-I 1 C089521
+?/? 2 HBG1:c.110C>G - p.Pro37Arg - - HBG1_00631 HbVar Hb variants (OMIM 0016);dbSNP;SwissVar VAR_003141;Chen SS et al.; Protein Amino Hb F-Pendergrass 1 C045642
+?/? 2 HBG1:c.112T>G - p.Trp38Gly - - HBG1_00632 HbVar Hb variants (OMIM 0006);dbSNP;SwissVar VAR_003142;Chen SS et al.; Protein Amino Hb F-Cobb 1 C048111
+?/? 2 HBG1:c.119A>G - p.Gln40Arg - - HBG1_00633 HbVar Hb variants (OMIM 0004);dbSNP;SwissVar VAR_003143;Nakatsuji T et al.; Protein Amino Hb F-Bonaire-GA 1 C036998
+?/? 2 HBG1:c.122G>A - p.Arg41Lys - - HBG1_00634 HbVar Hb variants (OMIM 0033);dbSNP;SwissVar VAR_003145;Huisman TH et al.; Protein Amino Hb F-Woodstock 1 D006455
+?/? 2 HBG1:c.130G>A - p.Asp44Asn - - HBG1_00651 HbVar Hb variants (OMIM 0010);dbSNP;SwissVar VAR_003147;Hidaka K et al.; Protein Amino Hb F-Fukuyama 1 C057244
+?/? 2 HBG1:c.161C>A - p.Ala54Asp - - HBG1_00635 HbVar Hb variants (OMIM 0003);dbSNP;SwissVar VAR_003149;Chen SS et al.; Protein Amino Hb F-Beech Island 1 C047884
+?/? 2 HBG1:c.184A>G - p.Lys62Glu - - HBG1_00636 HbVar Hb variants (OMIM 0013);dbSNP;SwissVar VAR_003153;Ahern EJ et al.; Protein Amino Hb F-Jamaica 1 D006455
+?/? 2 HBG1:c.217G>C - p.Gly73Arg - - HBG1_00637 HbVar Hb variants (OMIM 0011);dbSNP;SwissVar VAR_003158;Fuyuno K et al.; Protein Amino Hb F-Iwata 1 C029518
+?/? 2 HBG1:c.220G>A - p.Asp74Asn - - HBG1_00652 HbVar Hb variants (OMIM 0009);dbSNP;SwissVar VAR_003159;Chen SS et al.; Protein Amino Hb F-Forest Park 1 C047594
+?/? 2 HBG1:c.220G>C - p.Asp74His - - HBG1_00638 HbVar Hb variants (OMIM 0023);dbSNP;SwissVar VAR_003160;Ma M et al.; Protein Amino Hb F-Xin-Su 1 C054744
+?/? 2 HBG1:c.238G>A - p.Asp80Asn - - HBG1_00640 HbVar Hb variants (OMIM 0007);dbSNP;SwissVar VAR_003163;Al-Awamy BH et al.; Protein Amino Hb F-Dammam 1 C046186
+?/? 2 HBG1:c.241G>A - p.Asp81Asn - - HBG1_00653 HbVar Hb variants (OMIM 0024);dbSNP;SwissVar VAR_003165;Nakatsuji T et al.;Fuyuno K et al.;Wada Y et al.; Protein Amino Hb F-Yamaguchi 1 C029517
+?/? 2 HBG1:c.241G>T - p.Asp81Tyr - - HBG1_00641 HbVar Hb variants (OMIM 0021);dbSNP;SwissVar VAR_003164;Ahern E et al.; Protein Amino Hb F-Victoria Jubilee 1 D006455
+?/? 2 HBG1:c.275T>G - p.Leu92Arg - - HBG1_01774 HbVar Hb variants JOLY P. (E-4142-2010); Protein Amino Hb F-Moyen-Orient 1 D006455
+?/? 2 HBG1:c.293A>G - p.His98Arg - - HBG1_00642 HbVar Hb variants (OMIM 0008);dbSNP;SwissVar VAR_003168; Protein Amino Hb F-Dickinson 1 D006455
+?/? 2 HBG1:c.304G>A - p.Glu102Lys - - HBG1_02088 - Hb variants James D. Hoyer (F-7016-2010) DNA SEQ Hb F-Michigan Ave 1 -
+?/? 2-3 HBG1:c.[241G>A ;410C>G] - p.Ala137Gly - - HBG1_02067 - Hb variants (OMIM 0015);dbSNP;SwissVar VAR_020652;Nakatsuji T et al.; Protein Amino Hb F-Marietta 1 -
+?/? 2 U01317.1(HBG1):c.227T>C - p.Ile76Thr - - HBG1_00639 HbVar Hb variants (OMIM 0018);SwissVar VAR_003161;Huisman TH et al.;Huisman TH et al.;Grifoni V et al.; Protein Amino Hb F-Sardinia (AgammaT) 1 C040337
+?/? 3 HBG1:c.327T>A - p.Asn109Lys - - HBG1_00648 HbVar Hb variants dbSNP;dbSNP; Protein Amino Hb F-Ube 1 D006455
+?/? 3 HBG1:c.340G>A - p.Val114Ile - - HBG1_02032 - Hb variants Patel N et al.; Protein Amino Hb F-Sykesville 1 -
+?/? 3 HBG1:c.358G>A - p.Gly120Ser - - HBG1_01714 HbVar Hb variants dbSNP;Mereu P et al.; Protein Amino Hb F-Osilo 1 D006455
+?/? 3 HBG1:c.364G>A - p.Glu122Lys - - HBG1_00643 HbVar Hb variants dbSNP;SwissVar VAR_003173;Nakatsuji T et al.;Ahern EJ et al.;Sacker LS et al.; Protein Amino Hb F-Hull 1 D006455
+?/? 3 HBG1:c.364G>A - p.Glu122Lys - - HBG1_00654 HbVar Hb variants (OMIM 0019);Care A et al.; Protein Amino Hb F-Siena 1 C037710
+?/? 3 HBG1:c.364G>C - p.Glu122Gln - - HBG1_00664 HbVar Hb variants dbSNP; Protein Amino Hb F-Campinas 1 C481800
+?/? 3 HBG1:c.365A>T - p.Glu122Val - - HBG1_01727 HbVar Hb variants dbSNP;Joly P; HbVar A-2391-2010; Protein Amino Hb F-Salamanque 1 D006455
+?/? 3 HBG1:c.377A>C - p.Glu126Ala - - HBG1_01780 HbVar Hb variants P. JOLY (E-4142-2010); Protein Amino Hb F-Port-Royal II 1 D006455
+?/? 3 HBG1:c.377A>C - p.Glu126Ala - - HBG1_02068 - Hb variants (OMIM 0021);dbSNP;SwissVar VAR_003174;Huisman THJ; HbVar A-2391-2010;Brimhall B et al.; Protein Amino Hb F-Port Royal 1 -
+?/? 3 HBG1:c.385G>A - p.Ala129Thr - - HBG1_00644 HbVar Hb variants (OMIM 0002);dbSNP;SwissVar VAR_003175;Altay C et al.; Protein Amino Hb F-Baskent 1 C056359
+?/? 3 HBG1:c.396G>T - p.Gln132His - - HBG1_01589 HbVar Hb variants dbSNP;Francina A (E-3974-2010);Joly P (E-4142-2010); DNA SEQ Hb F-Oman 1 D006455
+?/? 3 HBG1:c.403G>A - p.Val135Met - - HBG1_00645 HbVar Hb variants (OMIM 0029);dbSNP;SwissVar VAR_003177;Plaseska D et al.; Protein Amino Hb F-Jiangsu 1 C066867
+?/? 3 HBG1:c.409G>T - p.Ala137Ser - - HBG1_00666 HbVar Hb variants (OMIM 0037);dbSNP;M Pirastru et al.; DNA SEQ Hb F-Porto Torres 1 C500300
+?/? 3 HBG1:c.410C>G - p.Ala137Gly - - HBG1_00665 HbVar Hb variants (OMIM 0032);dbSNP;Plaseska D et al.; Protein Amino Hb F-Charlotte 1 C070264
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Legend: [ HBG1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBG1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Disease Mesh ID: Mesh ID