LOVD - Variant listings for HBA1

About this overview [Show]

381 public entries
entries per page

Path. Hide Path. column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

HbVar link Hide HbVar link column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

# Reported Hide # Reported column Descending
Ascending

Ethnic origin Hide Ethnic origin column Descending
Ascending

Disease Mesh ID Hide Disease Mesh ID column Descending
Ascending

Geographic origin Hide Geographic origin column Descending
Ascending
+?/? 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.21C>G - p.Asp7Glu - - HBA1_02129 - Hb variants Nicola JESSOP (D-2137-2016)Tracey PARKINSON (O-3514-2014)Jason EYRE (O-2278-2014) Protein Amino Hb Brammer 1 - - -
+?/? 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.2T>A - p.Met1Lys - - HBA1_02112 - 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 - 100
[<-] 1 2 3 4 [->]


Save Click here to save this list in a tab-delimited text file.

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 Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient