HBB

hemoglobin subunit beta

Summary

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

Known Variants1,018 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112988270	11:5,246,475	C/T	—	benign
rs7110263	11:5,246,512	G/T	—	benign
rs12574989	11:5,246,514	T/C	—	uncertain significance
rs570662275	11:5,246,532	A/G	—	benign
rs111465890	11:5,246,582	T/C	—	likely benign
rs12788013	11:5,246,595	C/G	—	benign
rs567259408	11:5,246,597	A/G	—	likely benign
rs113969885	11:5,246,646	C/T	—	benign
rs1277208445	11:5,246,662	G/T	—	likely benign
rs1589891018	11:5,246,668	T/C	—	uncertain significance
rs1404554171	11:5,246,684	A/C	—	likely benign
rs560643693	11:5,246,690	A/C	—	likely benign
rs1420779550	11:5,246,696	G/A	—	likely pathogenic
rs528009939	11:5,246,699	A/T	—	uncertain significance
rs2133585664	11:5,246,711	G/A	—	uncertain significance
rs1554917417	11:5,246,713	T/G	—	uncertain significance
rs33985472	11:5,246,715	T/C	—	pathogenic
rs63750954	11:5,246,716	T/A	—	uncertain significance
rs63751128	11:5,246,717	T/C	—	pathogenic
rs33978907	11:5,246,718	A/T	—	pathogenic
rs1847518799	11:5,246,720	T/C	—	pathogenic
rs1564873881	11:5,246,724	C/T	—	uncertain significance
rs1554917429	11:5,246,726	G/A	—	uncertain significance
rs770911771	11:5,246,731	C/G	—	uncertain significance
rs34029390	11:5,246,732	A/G	—	conflicting classifications of pathogenicity
rs901033731	11:5,246,735	T/A	—	uncertain significance
rs193922549	11:5,246,737	C/T	—	uncertain significance
rs2133585726	11:5,246,745	C/A	—	uncertain significance
rs1554917435	11:5,246,750	A/G	—	uncertain significance
rs369101035	11:5,246,754	T/C	—	conflicting classifications of pathogenicity
rs1265505530	11:5,246,755	A/G	—	uncertain significance
rs1554917441	11:5,246,761	C/A	—	uncertain significance
rs1490059160	11:5,246,763	G/C	—	uncertain significance
rs1046868746	11:5,246,766	T/C	—	uncertain significance
rs1345009528	11:5,246,769	T/C	—	uncertain significance
rs1316817965	11:5,246,771	G/C	—	uncertain significance
rs537944366	11:5,246,772	T/A	—	uncertain significance
rs886048393	11:5,246,775	G/T	—	uncertain significance
rs1201877853	11:5,246,777	C/T	—	uncertain significance
rs759337708	11:5,246,780	A/G	—	uncertain significance
rs1158183534	11:5,246,781	G/A	—	uncertain significance
rs369307975	11:5,246,791	G/C	—	uncertain significance
rs200399660	11:5,246,794	C/T	—	likely benign
rs1364427740	11:5,246,795	C/A	—	uncertain significance
rs1847520793	11:5,246,796	T/G	—	pathogenic
rs755997419	11:5,246,803	G/C	—	uncertain significance
rs1348310843	11:5,246,810	G/T	—	uncertain significance
rs2494291724	11:5,246,812	C/T	—	uncertain significance
rs34809925	11:5,246,822	G/C	—	pathogenic
rs779043171	11:5,246,823	C/G	—	uncertain significance
rs372503204	11:5,246,824	G/A	—	uncertain significance
rs33985739	11:5,246,831	G/C	missense variant	other
rs33954264	11:5,246,832	T/C	missense variant	pathogenic
rs33961444	11:5,246,833	G/C	missense variant	pathogenic
rs35291591	11:5,246,834	A/T	stop gained	pathogenic
rs35117167	11:5,246,835	T/C	missense variant	pathogenic
rs33949869	11:5,246,836	A/G	missense variant	pathogenic
rs35020585	11:5,246,837	C/T	synonymous variant	likely benign
rs33996892	11:5,246,838	T/A	missense variant	other
rs34383403	11:5,246,839	—	—	—
rs33964352	11:5,246,839	T/A	stop gained	uncertain significance
rs36020563	11:5,246,840	G/Y	—	pathogenic
rs33918338	11:5,246,841	T/C	missense variant	pathogenic
rs63749858	11:5,246,841	—	—	—
rs33929415	11:5,246,842	G/C	missense variant	likely benign
rs33921821	11:5,246,844	G/T	missense variant	pathogenic
rs33931806	11:5,246,845	C/G	missense variant	uncertain significance
rs1268853687	11:5,246,846	C/A	—	likely benign
rs35854892	11:5,246,847	A/C	missense variant	uncertain significance
rs33970699	11:5,246,848	G/C	missense variant	no classification for the single variant
rs33927093	11:5,246,850	G/A	missense variant	pathogenic
rs34980264	11:5,246,851	C/T	missense variant	pathogenic
rs34240441	11:5,246,852	A/G	synonymous variant	uncertain significance
rs34407387	11:5,246,853	T/G	missense variant	uncertain significance
rs33910475	11:5,246,854	T/A	missense variant	other
rs33919821	11:5,246,857	C/G	missense variant	other
rs748704616	11:5,246,860	C/T	—	uncertain significance
rs33949486	11:5,246,862	C/T	missense variant	pathogenic
rs33984863	11:5,246,863	C/G	missense variant	other
rs2494291991	11:5,246,864	A/G	—	likely benign
rs35669628	11:5,246,865	G/A	missense variant	uncertain significance
rs35492035	11:5,246,866	C/G	missense variant	other
rs33966761	11:5,246,868	A/G	missense variant	pathogenic
rs113082294	11:5,246,870	C/G	—	conflicting classifications of pathogenicity
rs35825479	11:5,246,871	A/G	missense variant	other
rs34095019	11:5,246,872	C/G	missense variant	uncertain significance
rs33946775	11:5,246,873	T/A	missense variant	uncertain significance
rs33953406	11:5,246,875	T/A	stop gained	pathogenic
rs34188626	11:5,246,876	C/G	missense variant	other
rs33950778	11:5,246,877	T/C	missense variant	likely pathogenic
rs33910209	11:5,246,878	G/C	missense variant	pathogenic
rs281864530	11:5,246,879	A/T	—	pathogenic
rs33937535	11:5,246,880	T/G	missense variant	other
rs35834416	11:5,246,881	A/C	missense variant	other
rs111645889	11:5,246,883	G/A	missense variant	pathogenic
rs35939430	11:5,246,884	C/T	missense variant	uncertain significance
rs1248780802	11:5,246,885	A/T	—	likely benign
rs33957286	11:5,246,886	G/T	missense variant	uncertain significance
rs34139813	11:5,246,887	C/T	missense variant	uncertain significance
rs34502690	11:5,246,887	—	—	pathogenic

Showing 100 of 1,018 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.