LOVD - Variant listings for HBA1

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+?/? 1 HBA1:c.-16T>C - - - - HBA1_00221 HbVar alpha-1 thal dbSNP; DNA SEQ alpha1 +22 T->C 1 D013789
+?/? 1 HBA1:c.10T>C - p.Ser4Pro - - HBA1_01567 HbVar Hb variants dbSNP;dbSNP;Green B; Henthorn J; Mantio D; HbVar A-2391-2010; Protein Amino Hb Central Middlesex 1 D006455
+?/? 1 HBA1:c.11C>T - p.Ser4Phe - - HBA1_00212 HbVar Hb variants (OMIM 0205);dbSNP;Prehu C et al.; Protein Amino Hb Douala 1 C465740
+?/? 1 HBA1:c.16G>C - p.Ala6Pro - - HBA1_00008 HbVar Hb variants (OMIM 0080);dbSNP;dbSNP;SwissVar VAR_002722;Ahmad A et al.; Protein Amino Hb Karachi 1 C050799
+?/? 1 HBA1:c.17C>A - p.Ala6Asp - - HBA1_00007 HbVar Hb variants (OMIM 0078);dbSNP;dbSNP;SwissVar VAR_002721;VAN LAER C.; HbVar A-2391-2010;Vella F et al.;Crookston JH et al.; Protein Amino Hb J-Toronto 1 D006455
+?/? 1 HBA1:c.19G>A - p.Asp7Asn - - HBA1_00010 HbVar Hb variants (OMIM 0029);dbSNP;dbSNP;SwissVar VAR_002725;Baklouti F et al.;Nakatsuji T et al.;Charache S et al.; Protein Amino Hb Dunn 1 C040493
+?/? 1 HBA1:c.19G>C - p.Asp7His - - HBA1_00242 HbVar Hb variants dbSNP;Dagna-Bricarelli F; Forni G; Ivaldi G; Leone D; Parastatidou S; Viaggi C; HbVar A-2391-2010; DNA SEQ Hb Galliera I 1 D006455
+?/? 1 HBA1:c.19G>T - p.Asp7Tyr - - HBA1_00012 HbVar Hb variants (OMIM 0158);dbSNP;dbSNP;SwissVar VAR_002727;Como PF et al.; Protein Amino Hb Woodville 1 C048298
+?/? 1 HBA1:c.19_21delGAC - - - - HBA1_00184 HbVar Hb variants (OMIM 0018);dbSNP;dbSNP;Zhao W et al.;Johnson CS et al.; Protein Amino Hb Boyle Heights 1 C040844
+?/? 1 HBA1:c.1A>G - - - - HBA1_00205 HbVar alpha-2 thal dbSNP;Moi P et al.; DNA SEQ Initiation codon (A->G); ATG->GTG of the alpha1 gene alpha-Thal-2 1 D013789
+?/? 1 HBA1:c.20A>C - p.Asp7Ala - - HBA1_00009 HbVar Hb variants (OMIM 0128);dbSNP;dbSNP;SwissVar VAR_002723;Sasaki J et al.;Sumida I et al.;Sumida I et al.; Protein Amino Hb Sawara 1 D006455
+?/? 1 HBA1:c.20A>G - p.Asp7Gly - - HBA1_00013 HbVar Hb variants (OMIM 0145);dbSNP;dbSNP;SwissVar VAR_002724;Harano T et al.;Moo-Penn WF et al.;Como PF et al.; Protein Amino Hb Swan River 1 C052834
+?/? 1 HBA1:c.20A>T - p.Asp7Val - - HBA1_00011 HbVar Hb variants (OMIM 0032);dbSNP;dbSNP;SwissVar VAR_002726;Lee-Potter JP et al.; Protein Amino Hb Ferndown 1 C030557
+?/? 1 HBA1:c.22A>G - p.Lys8Glu - - HBA1_00015 HbVar Hb variants (OMIM 0068);dbSNP;dbSNP;SwissVar VAR_002728;Wenning MR et al.;Harano T et al.; Protein Amino Hb Kurosaki 1 C095951
+?/? 1 HBA1:c.24G>C - p.Lys8Asn - - HBA1_00014 HbVar Hb variants (OMIM 0187);dbSNP;dbSNP;Wajcman H et al.; Protein Amino Hb Tatras 1 C093038
+?/? 1 HBA1:c.28A>G - p.Asn10Asp - - HBA1_01890 HbVar Hb variants - Protein Amino Hb Farnborough 1 D006455
+?/? 1 HBA1:c.29A>C - p.Asn10Thr - - HBA1_00231 HbVar Hb variants dbSNP;dbSNP;Wild B; HbVar A-2391-2010; Protein Amino Hb Broomfield 1 D006455
+?/? 1 HBA1:c.29A>G - p.Asn10Ser - - HBA1_00247 HbVar Hb variants dbSNP;Giordano P (A-9724-2010); DNA SEQ Hb Anadour 1 D006455
+?/? 1 HBA1:c.2T>A - p.Met1Lys - - HBA1_01965 - alpha-2 thal Waye JS et al.; Protein Amino Alpha1_Initiation codon_ATG>AAG 1 -
+?/? 1 HBA1:c.30C>G - p.Asn10Lys - - HBA1_00215 HbVar Hb variants (OMIM 0208);dbSNP;Harteveld CL et al.; Protein Amino Hb Delfzicht 1 C476050
+?/? 1 HBA1:c.34A>C - p.Lys12Gln - - HBA1_00017 HbVar Hb variants (OMIM 0159);dbSNP;dbSNP;Wang WC et al.;Qualtieri A et al.;Zeng YT et al.;Svasti J et al.; Protein Amino Hb J-Wenchang-Wuming 1 D006455
+?/? 1 HBA1:c.38C>A - p.Ala13Asp - - HBA1_00019 HbVar Hb variants (OMIM 0070);dbSNP;dbSNP;SwissVar VAR_002730;Molchanova TP et al.;Dash S et al.;Niazi GA et al.; Protein Amino Hb J-Paris-I 1 C049661
+?/? 1 HBA1:c.40G>A - p.Ala14Thr - - HBA1_01702 HbVar Hb variants dbSNP;; Pissard S.; Prehu C; Riou J.; HbVar A-2391-2010; Protein Amino Hb Olivet 1 D006455
+?/? 1 HBA1:c.40G>C - p.Ala14Pro - - HBA1_00232 HbVar Hb variants dbSNP;dbSNP;Wild B; HbVar A-2391-2010; Protein Amino Hb Ravenscourt Park 1 D006455
+?/? 1 HBA1:c.44G>A - p.Trp15Stop - - HBA1_00240 HbVar alpha-1 thal dbSNP;Harteveld CL et al.; DNA SEQ Codon 14 G>A 1 D013789
+?/? 1 HBA1:c.44G>T - p.Trp15Leu - - HBA1_01699 HbVar Hb variants dbSNP;Hergersberg M et al.; Protein Amino Hb Basel 1 D006455
+?/? 1 HBA1:c.46G>C - p.Gly16Arg - - HBA1_00022 HbVar Hb variants (OMIM 0114);dbSNP;dbSNP;SwissVar VAR_002732;Turbpaiboon C et al.;Pootrakul S et al.; Protein Amino Hb Ottawa 1 C406708
+?/? 1 HBA1:c.46G>T - p.Gly16Cys - - HBA1_01688 HbVar Hb variants dbSNP;Hoyer JD (F-7016-2010); DNA SEQ Hb St. Rose 1 D006455
+?/? 1 HBA1:c.47G>A - p.Gly16Asp - - HBA1_00021 HbVar Hb variants (OMIM 0010);dbSNP;Schiliro G et al.;Schiliro G et al.;Molchanova TP et al.; Protein Amino Hb I-Interlaken 1 C042251
+?/? 1 HBA1:c.4G>T - p.Val2Leu - - HBA1_01573 HbVar Hb variants dbSNP;Fraser L; Green B; Henthorn JS; Moradkhani K (E-4221-2010);HbVar A-2391-2010; Protein Amino Hb Baldock 1 D006455
+?/? 1 HBA1:c.50A>T - p.Lys17Met - - HBA1_00024 HbVar Hb variants (OMIM 0050);dbSNP;dbSNP;SwissVar VAR_002733;Zeng YT et al.; Protein Amino Hb Harbin 1 C044393
+?/? 1 HBA1:c.55G>A - p.Gly19Ser - - HBA1_01895 HbVar Hb variants EYRE J. (O-2278-2014);JESSOP N. (D-2137-2016);KEENEY S.; PARKINSON T. (O-3514-2014);HbVar A-2391-2010; Protein Amino Hb King Ecgbert 1 D006455
+?/? 1 HBA1:c.55G>C - p.Gly19Arg - - HBA1_00025 HbVar Hb variants (OMIM 0049);dbSNP;dbSNP;SwissVar VAR_002736;Al-Awamy BH et al.;Chih-chuan L et al.;Griffiths KD et al.; Protein Amino Hb Handsworth 1 C029520
+?/? 1 HBA1:c.55G>T - p.Gly19Cys - - HBA1_01626 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); DNA SEQ Hb Lima 1 D006455
+?/? 1 HBA1:c.56G>A - p.Gly19Asp - - HBA1_00026 HbVar Hb variants (OMIM 0175);dbSNP;dbSNP;SwissVar VAR_002735;Abbes S et al.; Protein Amino Hb Al-Ain Abu Dhabi 1 C077660
+?/? 1 HBA1:c.59C>A - p.Ala20Glu - - HBA1_00028 HbVar Hb variants (OMIM 0076);dbSNP;dbSNP;SwissVar VAR_002738;Li HJ et al.; Protein Amino Hb J-Tashikuergan 1 C043009
+?/? 1 HBA1:c.5T>A - p.Val2Glu - - HBA1_00183 HbVar Hb variants (OMIM 0168);dbSNP;dbSNP;SwissVar VAR_002719; Protein Amino Hb Thionville 1 C075442
+?/? 1 HBA1:c.5T>G - p.Val2Gly - - HBA1_00005 HbVar Hb variants (OMIM 0038);dbSNP;dbSNP;Kister J et al.; Protein Amino Hb Antananarivo 1 C119411
+?/? 1 HBA1:c.61C>T - p.His21Tyr - - HBA1_00029 HbVar Hb variants (OMIM 0104);dbSNP;dbSNP;Wajcman H et al.; Protein Amino Hb Necker Enfants-Malades 1 D006455
+?/? 1 HBA1:c.62A>C - p.His21Pro - - HBA1_00197 HbVar Hb variants dbSNP;dbSNP;Cotton F. et al.; Protein Amino Hb Anderlecht 1 D006455
+?/? 1 HBA1:c.62A>G - p.His21Arg - - HBA1_00030 HbVar Hb variants (OMIM 0053);dbSNP;dbSNP;SwissVar VAR_002740;Fleming PJ et al.; Protein Amino Hb Hobart 1 C053835
+?/? 1 HBA1:c.62_63insT - - - - HBA1_01703 HbVar Thalassemia dbSNP;Arnaud L; Cartron JP; Prehu C; HbVar A-2391-2010; Protein Amino Hb alpha1 codon20(+T) 1 D013789
+?/? 1 HBA1:c.63C>A - p.His21Gln - - HBA1_01604 HbVar Hb variants dbSNP;Speer 0; Zurbriggen K; HbVar A-2391-2010;Rizzi M et al.; DNA SEQ Hb Brugg 1 D006455
+?/? 1 HBA1:c.64G>C - p.Ala22Pro - - HBA1_00032 HbVar Hb variants (OMIM 0033);dbSNP;dbSNP;SwissVar VAR_002742;Wajcman H et al.; Protein Amino Hb Fontainebleau 1 C062066
+?/? 1 HBA1:c.65C>A - p.Ala22Asp - - HBA1_00031 HbVar Hb variants (OMIM 0068);dbSNP;dbSNP;SwissVar VAR_002741;Kendall AG et al.; Protein Amino Hb J-Nyanza 1 D006455
+?/? 1 HBA1:c.68G>A - p.Gly23Asp - - HBA1_00033 HbVar Hb variants (OMIM 0067);dbSNP;dbSNP;SwissVar VAR_002743; Protein Amino Hb J-Medellin 1 D006455
+?/? 1 HBA1:c.70G>A - p.Glu24Lys - - HBA1_00035 HbVar Hb variants (OMIM 0016);dbSNP;dbSNP;SwissVar VAR_002745;Codrington JF et al.;Blackwell RQ et al.;Boyer SH et al.; Protein Amino Hb Chad 1 C040492
+?/? 1 HBA1:c.70G>C - p.Glu24Gln - - HBA1_00034 HbVar Hb variants (OMIM 0096);dbSNP;dbSNP;Cooper MR et al.;Kraus LM et al.; Protein Amino Hb Memphis 1 D006455
+?/? 1 HBA1:c.70G>T - p.Glu24Stop - - HBA1_00220 HbVar alpha-1 thal (OMIM 0063);dbSNP;Siala H et al.; DNA SEQ alpha1 cd23 GAG->TAG 1 D013789
+?/? 1 HBA1:c.71A>G - p.Glu24Gly - - HBA1_00037 HbVar Hb variants (OMIM 0124);dbSNP;dbSNP;SwissVar VAR_002744;Bardakdjian-Michau J et al.; Protein Amino Hb Reims 1 C063954
+?/? 1 HBA1:c.71A>T - p.Glu24Val - - HBA1_00036 HbVar Hb variants (OMIM 0035);dbSNP;dbSNP;Beale D et al.;Blaschko H et al.;Lehmann H et al.;Marengo-Rowe AJ et al.; Protein Amino Hb G-Audhali 1 D006455
+?/? 1 HBA1:c.72G>T - p.Glu24Asp - - HBA1_00038 HbVar Hb variants (OMIM 0188);dbSNP;dbSNP;Wajcman H et al.; Protein Amino Hb Lisbon 1 C093039
+?/? 1 HBA1:c.73T>C - p.Tyr25His - - HBA1_00039 HbVar Hb variants (OMIM 0091);dbSNP;dbSNP;SwissVar VAR_002746;Moo-Penn WF et al.;Groff P et al.; Protein Amino Hb Luxembourg 1 C062067
+?/? 1 HBA1:c.74A>G - p.Tyr25Cys - - HBA1_00040 HbVar Hb variants (OMIM 0186);dbSNP;Pobedimskaya DD et al.; Protein Amino Hb Ramona 1 C091967
+?/? 1 HBA1:c.80C>A - p.Ala27Glu - - HBA1_00041 HbVar Hb variants (OMIM 0132);dbSNP;dbSNP;SwissVar VAR_002747;Yi CH et al.;Zeng YT et al.; Protein Amino Hb Shenyang 1 C037201
+?/? 1 HBA1:c.82G>A - p.Glu28Lys - - HBA1_00044 HbVar Hb variants (OMIM 0134);dbSNP;dbSNP;Huang CH et al.;Chihchuan L et al.;Chihchuan L et al.; Protein Amino Hb Shuangfeng 1 C033983
+?/? 1 HBA1:c.83A>C - p.Glu28Ala - - HBA1_00233 HbVar Hb variants dbSNP;dbSNP;Wild BJ et al.; Protein Amino Hb Hackney 1 D006455
+?/? 1 HBA1:c.83A>G - p.Glu28Gly - - HBA1_00042 HbVar Hb variants (OMIM 0037);dbSNP;dbSNP;SwissVar VAR_002749;Carstairs KC et al.;Schneider RG et al.; Protein Amino Hb Fort Worth 1 C046190
+?/? 1 HBA1:c.83A>T - p.Glu28Val - - HBA1_00043 HbVar Hb variants (OMIM 0009);dbSNP;dbSNP;SwissVar VAR_002750;Cash FE et al.;Ruiz-Reyes G et al.;Faustino P et al.; Protein Amino Hb Spanish Town 1 C476051
+?/? 1 HBA1:c.84G>T - p.Glu28Asp - - HBA1_01886 HbVar Hb variants - Protein Amino Hb Hekinan II 1 D006455
+?/? 1 HBA1:c.85G>A - p.Ala29Thr - - HBA1_01893 HbVar Hb variants Jason EYRE (O-2278-2014);Steve KEENEY; Tracey PARKINSON (O-3514-2014);HbVar A-2391-2010; Protein Amino Hb Bramall Lane 1 D006455
+?/? 1 HBA1:c.86C>T - p.Ala29Val - - HBA1_01600 HbVar Hb variants dbSNP;Phylipsen M et al.; DNA SEQ Hb Nedlands 1 D006455
+?/? 1 HBA1:c.88C>G - p.Leu30Val - - HBA1_00252 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); DNA SEQ Hb Kosovo 1 D006455
+?/? 1 HBA1:c.8T>G - p.Leu3Arg - - HBA1_00006 HbVar Hb variants (OMIM 0021);dbSNP;dbSNP;SwissVar VAR_002720;Zeng YT et al.; Protein Amino Hb Chongqing 1 C044392
+?/? 1 HBA1:c.91G>A - p.Glu31Lys - - HBA1_00045 HbVar Hb variants (OMIM 0111);dbSNP;dbSNP;SwissVar VAR_002751;Barbui T et al.;Martin G et al.;Schnedl WJ et al.; Protein Amino Hb O-Padova 1 C038278
+?/? 1 HBA1:c.91G>C - p.Glu31Gln - - HBA1_00046 HbVar Hb variants dbSNP;dbSNP;Paleari R et al.;Blackwell RQ et al.;Liu GY et al.;Chang JG et al.; Protein Amino Hb G-Honolulu 1 C043216
+?/? 1 HBA1:c.92A>C - p.Glu31Ala - - HBA1_00228 HbVar Hb variants dbSNP;Jorge SE et al.; Protein Amino Hb Bom Jesus da Lapa 1 D006455
+?/? 1 HBA1:c.92A>T - p.Glu31Val - - HBA1_00227 HbVar Hb variants dbSNP;Jorge SE et al.; Protein Amino Hb Itapira 1 D006455
+?/? 1 HBA1:c.94_95delAG - - - - HBA1_01789 HbVar alpha-1 thal Zhao P et al.; Protein Amino Alpha-3.7KbAllele:c.94_95delAG 1 D013789
+?/? 1 HBA1:c.95+45G>C - - - - HBA1_01697 HbVar alpha-1 thal dbSNP;Gallivan (A-9986-2010); Protein Amino IVS I-45 G>C 1 D013789
+?/? 1 HBA1:c.95+4A>G - - - - HBA1_01816 HbVar alpha-2 thal BAYAT Nooshin (D-7936-2012);Bayat N et al.; Protein Amino IVSI-4 A>G (alpha 1) 1 D013789
+?/? 1 HBA1:c.95+5G>A - - - - HBA1_00254 HbVar alpha-1 thal dbSNP;Joly P (E-4142-2010); DNA SEQ IVS I-5 G>A 1 D013789
+?/? 1 HBA1:c.95G>C - p.Arg32Thr - - HBA1_01739 HbVar Hb variants dbSNP;Curcio C (D-3898-2011); Protein Amino Hb Mao 1 D006455
+?/? 1 HBA1:c.9_10insCTG - - - - HBA1_01625 HbVar Hb variants dbSNP;Gallivan M (A-9986-2010); DNA SEQ Hb Pittsburgh 1 D006455
+?/? 1 HBA1:c.[36G>C or 36G>T ] - p.Lys12Asn - - HBA1_00018 HbVar Hb variants (OMIM 0002);dbSNP;dbSNP;dbSNP;dbSNP;Webber BB et al.; Protein Amino Hb Albany-Suma 1 C038622
+?/? 1 HBA1:c.[43T>A or 43T>C ] - p.Trp15Arg - - HBA1_00020 HbVar Thalassemia (OMIM 0031);dbSNP;dbSNP;dbSNP;dbSNP;SwissVar VAR_002731;Giordano PC (A-9724-2010);Harteveld CL et al.; Protein Amino Hb Evanston 1 C039216
+?/? 1 HBA1:c.[51G>C or 51G>T ] - p.Lys17Asn - - HBA1_00023 HbVar Hb variants (OMIM 0010);dbSNP;dbSNP;dbSNP;dbSNP;SwissVar VAR_002734;Liang CC et al.; Protein Amino Hb Beijing 1 C037202
+?/? 1 HBA1:p.Ala20Asp - p.Ala20Asp - - HBA1_00027 HbVar Hb variants (OMIM 0066);SwissVar VAR_002737;Rahbar S et al.; Protein Amino Hb J-Kurosh 1 D006455
+?/? 1 HBA1:p.Lys12Glu - p.Lys12Glu - - HBA1_00016 HbVar Hb variants (OMIM 0003);SwissVar VAR_002729;Svasti J et al.;Pootrakul S et al.; Protein Amino Hb Anantharaj 1 D006455
+?/? 1-3 NC_000016.9:g.189300_232500del - - - - HBA1_01543 HbVar alpha-1 thal Vickers MA et al.; Protein Amino - -(MC); a deletion of at least 46 kb involving both alpha genes and zeta gene alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.197600_229800del - - - - HBA1_01531 HbVar alpha-1 thal Villegas A et al.;Fortina P et al.; Protein Amino - -(CAL); deletion of 32 kb involving both the alpha and zeta genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.199800_233300del - - - - HBA1_01527 HbVar alpha-1 thal - Protein Amino - -(THAI); a deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.200000_230000del - - - - HBA1_01535 HbVar alpha-1 thal Kutlar F et al.; Protein Amino - -(MED-II); a deletion of 26.5 kb involving the two alpha and zeta genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.200820_232670del - - - - HBA1_01523 HbVar alpha-1 thal Fischel-Ghodsian N et al.; Protein Amino - -(FIL); a deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.201400_238300del - - - - HBA1_01539 HbVar alpha-1 thal Sabath DE et al.; Protein Amino - -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.202450_313800del - - - - HBA1_01519 HbVar alpha-1 thal - Protein Amino - -(CL); deletion of at least 40 kb involving the two alpha and zeta genes alpha-Thal-1 1 D013789
+?/? 1-2 NC_000016.9:g.204300_227000del - - - - HBA1_01506 HbVar alpha-1 thal Nicholls RD et al.;Bowden DK et al.; Protein Amino -(alpha)20.5; this 20.5 kb deletion involves alpha2 and the 5' end of alpha1; alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.205500_234800del - - - - HBA1_01516 HbVar alpha-1 thal Steinberg MH et al.; Protein Amino - -(BRIT); deletion of ~26 kb involving both alpha genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.208100_229000del - - - - HBA1_01510 HbVar alpha-1 thal Villegas A et al.;Gonzalez-Redondo JM et al.; Protein Amino - -(MA); deletion of ~22 kb involving both alpha genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.208600_232200del - - - - HBA1_01513 HbVar alpha-1 thal Fei YJ et al.;Vandenplas S et al.;Mathew CG et al.; Protein Amino - -(SA); deletion of 22.8-23.7 kb involving both alpha-globin genes; alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.213800_230200del - - - - HBA1_01503 HbVar alpha-1 thal Baysal E et al.;Sonati MF et al.;Bowden DK et al.;Pressley L et al.; Protein Amino - -(MED-I); deletion of ~17.5 kb including both alpha-globin genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.215400_234700del - - - - HBA1_01501 HbVar alpha-1 thal Waye JS et al.;Daenen S et al.;Bowden DK et al.;Pressley L et al.; Protein Amino - -(SEA); deletion of ~20 kb including both alpha-globin genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.218500_231600del - - - - HBA1_01499 HbVar alpha-1 thal Villegas A et al.; Protein Amino - -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.220000_230550del - - - - HBA1_01497 HbVar alpha-1 thal Villegas A et al.;Villegas A et al.; Protein Amino - -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes alpha-Thal-1 1 D013789
+?/? 1-3 NC_000016.9:g.222000_231400del - - - - HBA1_01495 HbVar alpha-1 thal Fei YJ et al.; Protein Amino - -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes alpha-Thal-1 1 D013789
+?/? 1-2 NC_000016.9:g.223300_227103del - - - - HBA1_01492 HbVar alpha-2 thal Kazazian HH Jr et al.;Baysal E et al.;Embury SH et al.; Protein Amino 3.7 kb (type I) deletion alpha-2 1 D013789
+?/? 1-3 NC_000016.9:g.225800_228500del - - - - HBA1_00208 HbVar alpha-2 thal Zhao JB et al.; Protein Amino 2.7 kb deletion involving the alpha1 gene alpha-Thal-2 1 D013789
+?/? 1-3 NC_000016.9:g.226600_230100del - - - - HBA1_00209 HbVar alpha-2 thal Kulozik AE et al.; Protein Amino 3.5 kb deletion involving the alpha1 gene alpha-Thal-2 1 D013789
+?/? 1-2 NG_000006.1:g.32867_38062del - - - - HBA1_01933 HbVar alpha-1 thal Fortina P et al.;Pressley L et al.; DNA SEQ -(alpha)5.2; deletion of 5196 nt alpha-Thal-1 1 D013789
+?/? 2 HBA1:c.104T>G - p.Leu35Arg - - HBA1_00048 HbVar Hb variants (OMIM 0112);dbSNP;dbSNP;SwissVar VAR_002753;Moo-Penn WF et al.;Lee NY et al.;Yongsuwan S et al.; Protein Amino Hb Queens 1 C035047
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Legend: [ HBA1 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. HBA1 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