ABCA1

ATP binding cassette subfamily A member 1

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

Known Variants1,284 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs200442611	9:107,543,284	T/G	—	uncertain significance
rs572159293	9:107,543,317	T/A	—	uncertain significance
rs79840023	9:107,543,342	A/G	—	likely benign
rs148080589	9:107,543,345	A/G	—	likely benign
rs10991377	9:107,543,376	C/T	—	benign
rs368530588	9:107,543,388	A/T	—	uncertain significance
rs778273493	9:107,543,409	T/C	—	uncertain significance
rs190539368	9:107,543,509	G/A	—	conflicting classifications of pathogenicity
rs77877520	9:107,543,513	A/G	—	benign
rs181614282	9:107,543,567	T/C	—	uncertain significance
rs967923678	9:107,543,608	G/A	—	uncertain significance
rs551547276	9:107,543,689	T/G	—	conflicting classifications of pathogenicity
rs1223126122	9:107,543,703	G/T	—	uncertain significance
rs754322675	9:107,543,850	A/G	—	uncertain significance
rs940819544	9:107,543,859	A/G	—	uncertain significance
rs75141626	9:107,543,891	C/T	—	benign
rs535377345	9:107,543,943	G/C	—	uncertain significance
rs1402427677	9:107,543,951	C/T	—	uncertain significance
rs572043133	9:107,543,985	T/C	—	conflicting classifications of pathogenicity
rs999916021	9:107,544,059	C/T	—	uncertain significance
rs1032727777	9:107,544,080	A/G	—	uncertain significance
rs963823410	9:107,544,094	A/C	—	uncertain significance
rs539455164	9:107,544,110	A/G	—	conflicting classifications of pathogenicity
rs886063293	9:107,544,150	T/G	—	uncertain significance
rs557529420	9:107,544,187	A/G	—	conflicting classifications of pathogenicity
rs987868101	9:107,544,225	T/C	—	uncertain significance
rs543756430	9:107,544,266	T/A	—	uncertain significance
rs4149341	9:107,544,285	T/C	—	benign
rs886063294	9:107,544,376	A/T	—	uncertain significance
rs573577369	9:107,544,467	T/A	—	likely benign
rs146353431	9:107,544,507	C/T	—	conflicting classifications of pathogenicity
rs1041411944	9:107,544,594	T/G	—	uncertain significance
rs1385392723	9:107,544,626	C/G	—	uncertain significance
rs41437944	9:107,544,673	T/G	—	likely benign
rs4149340	9:107,544,685	G/A	—	benign
rs886063295	9:107,544,696	A/C	—	uncertain significance
rs363717	9:107,544,700	C/T	downstream gene variant	benign
rs768723417	9:107,544,720	T/C	—	uncertain significance
rs549298167	9:107,544,793	C/G	—	likely benign
rs76321849	9:107,544,806	G/A	—	conflicting classifications of pathogenicity
rs1366452009	9:107,544,823	T/G	—	uncertain significance
rs535255845	9:107,544,828	A/T	—	conflicting classifications of pathogenicity
rs547281385	9:107,544,829	C/A	—	conflicting classifications of pathogenicity
rs886063296	9:107,544,939	G/A	—	uncertain significance
rs41432545	9:107,544,943	A/T	—	benign
rs75340923	9:107,545,010	T/C	—	likely benign
rs886063297	9:107,545,022	A/G	—	uncertain significance
rs537176920	9:107,545,120	T/C	—	conflicting classifications of pathogenicity
rs886063298	9:107,545,129	T/A	—	uncertain significance
rs4149339	9:107,545,156	G/A	3 prime UTR variant	benign
rs202165873	9:107,545,269	C/T	—	likely benign
rs563738526	9:107,545,270	G/A	—	uncertain significance
rs144920087	9:107,545,274	G/A	—	likely benign
rs148609447	9:107,545,336	G/C	—	conflicting classifications of pathogenicity
rs1037635917	9:107,545,374	G/A	—	uncertain significance
rs528656411	9:107,545,378	T/C	—	conflicting classifications of pathogenicity
rs547220092	9:107,545,385	C/T	—	conflicting classifications of pathogenicity
rs886063299	9:107,545,392	T/A	—	uncertain significance
rs1828646913	9:107,545,423	G/A	—	uncertain significance
rs186900352	9:107,545,442	G/T	—	conflicting classifications of pathogenicity
rs1037309867	9:107,545,565	A/G	—	uncertain significance
rs995391814	9:107,545,613	T/A	—	uncertain significance
rs1056929833	9:107,545,698	G/C	—	uncertain significance
rs886063300	9:107,545,721	A/T	—	uncertain significance
rs569604699	9:107,545,722	C/T	—	conflicting classifications of pathogenicity
rs912309547	9:107,545,897	G/A	—	uncertain significance
rs4149338	9:107,545,903	G/A	3 prime UTR variant	benign
rs886063301	9:107,545,919	T/C	—	uncertain significance
rs879092419	9:107,545,982	G/A	—	uncertain significance
rs886063302	9:107,546,030	C/G	—	uncertain significance
rs745459951	9:107,546,110	C/T	—	uncertain significance
rs561319670	9:107,546,179	T/C	—	uncertain significance
rs151170184	9:107,546,190	A/G	—	conflicting classifications of pathogenicity
rs755818735	9:107,546,198	T/C	—	uncertain significance
rs73517870	9:107,546,201	A/T	—	benign
rs867969689	9:107,546,217	G/A	—	uncertain significance
rs13306080	9:107,546,228	T/C	—	conflicting classifications of pathogenicity
rs146987516	9:107,546,254	C/A	—	benign
rs569460168	9:107,546,259	G/A	—	uncertain significance
rs1280497287	9:107,546,267	A/G	—	uncertain significance
rs530474404	9:107,546,293	G/A	—	uncertain significance
rs886063303	9:107,546,307	A/G	—	uncertain significance
rs759527890	9:107,546,311	G/A	—	uncertain significance
rs886063304	9:107,546,464	T/C	—	uncertain significance
rs74316246	9:107,546,500	A/G	—	likely benign
rs368288959	9:107,546,577	C/A	—	conflicting classifications of pathogenicity
rs779593454	9:107,546,579	C/T	—	uncertain significance
rs751049570	9:107,546,599	T/C	—	likely benign
rs2538024679	9:107,546,611	T/C	—	likely benign
rs192904467	9:107,546,614	C/T	—	likely benign
rs745893578	9:107,546,622	C/T	—	uncertain significance
rs755958919	9:107,546,629	T/C	—	likely benign
rs375203349	9:107,546,635	A/G	—	likely benign
rs746020160	9:107,546,638	T/C	—	likely benign
rs772446983	9:107,546,639	G/T	—	uncertain significance
rs1466911823	9:107,546,651	A/G	—	uncertain significance
rs144588452	9:107,546,652	C/T	—	conflicting classifications of pathogenicity
rs34879708	9:107,546,653	G/T	—	likely benign
rs762324071	9:107,546,661	C/T	—	uncertain significance
rs2538024805	9:107,546,670	T/A	—	uncertain significance

Showing 100 of 1,284 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.