View all contents - The Globin Gene Server - Leiden Open Variation Database

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The variants below are all in the HBA1 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than HBA1, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HBA1 full legend here.

381 public entries
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Path.

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

HbVar link

Disease

Reference

Template

Technique

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# Reported

Ethnic origin

Disease Mesh ID

Geographic origin


+?/?	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	-

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

The Globin Gene Server

alpha-1 globin (HBA1)