ABCA7

ATP binding cassette subfamily A member 7

Summary

The 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 intra-cellular 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. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]

Known Variants291 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs200538373	19:1,039,394	CAG/C	frameshift variant	uncertain significance
rs3752228	19:1,041,164	C/T	regulatory region variant	—
rs3752229	19:1,041,352	A/G	—	benign
rs1195694822	19:1,041,387	G/A	—	likely benign
rs546173555	19:1,041,415	C/T	—	uncertain significance
rs764096823	19:1,041,540	T/C	—	likely benign
rs367574717	19:1,041,612	C/G	—	likely benign
rs768917670	19:1,041,828	A/T	—	uncertain significance
rs144546979	19:1,041,909	C/T	—	likely benign
rs201665195	19:1,041,971	T/G	—	uncertain significance
rs374346281	19:1,042,059	C/G	—	likely benign
rs1599546933	19:1,042,078	A/G	—	likely benign
rs151054304	19:1,042,353	C/T	—	benign
rs140835505	19:1,042,393	C/T	—	likely benign
rs531280216	19:1,042,747	A/G	—	benign
rs3764645	19:1,042,809	G/A	—	benign
rs113465431	19:1,042,830	G/A	—	likely benign
rs142809982	19:1,043,047	C/T	—	uncertain significance
rs771494956	19:1,043,052	C/T	—	conflicting classifications of pathogenicity
rs72973581	19:1,043,103	G/A	missense variant	—
rs375055112	19:1,043,139	G/A	—	uncertain significance
rs150820818	19:1,043,152	G/A	—	uncertain significance
rs373194295	19:1,043,161	T/G	—	likely benign
rs1174607577	19:1,043,177	C/A	—	uncertain significance
rs145274467	19:1,043,183	C/T	—	benign
rs377552810	19:1,043,193	G/T	—	uncertain significance
rs2512250635	19:1,043,196	C/G	—	uncertain significance
rs756554074	19:1,043,239	A/T	—	uncertain significance
rs58262414	19:1,043,260	T/G	—	benign
rs372124951	19:1,043,374	C/T	—	uncertain significance
rs375028339	19:1,043,384	G/T	—	uncertain significance
rs749959049	19:1,043,455	C/T	—	uncertain significance
rs149023827	19:1,043,747	C/T	—	likely benign
rs146086314	19:1,043,793	C/T	—	uncertain significance
rs2512258026	19:1,043,817	A/G	—	uncertain significance
rs761115996	19:1,044,574	A/C	—	likely pathogenic
rs771187987	19:1,044,576	C/T	—	uncertain significance
rs143296441	19:1,044,589	T/C	—	likely benign
rs146982710	19:1,044,619	C/G	—	uncertain significance
rs2512265240	19:1,044,621	G/A	—	uncertain significance
rs746179458	19:1,044,646	T/A	—	uncertain significance
rs746230971	19:1,044,709	G/A	—	uncertain significance
rs10405305	19:1,045,026	C/G	—	benign
rs149897784	19:1,045,105	C/A	—	uncertain significance
rs574065692	19:1,045,149	C/T	—	uncertain significance
rs3752233	19:1,045,173	G/A	—	benign
rs778656586	19:1,045,211	A/C	—	uncertain significance
rs770331491	19:1,045,223	A/C	—	likely benign
rs1568254656	19:1,045,239	A/T	—	likely benign
rs1276745363	19:1,046,284	G/A	—	uncertain significance
rs2512284945	19:1,046,285	G/T	—	uncertain significance
rs150971192	19:1,046,287	G/A	—	uncertain significance
rs374228184	19:1,046,293	G/A	—	uncertain significance
rs2512285122	19:1,046,296	T/A	—	uncertain significance
rs758858591	19:1,046,316	G/C	—	uncertain significance
rs377020137	19:1,046,330	G/C	—	uncertain significance
rs766013726	19:1,046,341	G/A	—	uncertain significance
rs1365776727	19:1,046,354	G/A	—	uncertain significance
rs984215010	19:1,046,358	C/T	—	likely benign
rs1268877182	19:1,046,376	G/C	—	uncertain significance
rs150419414	19:1,046,404	G/A	—	conflicting classifications of pathogenicity
rs3764650	19:1,046,520	T/G	regulatory region variant	—
rs1269893155	19:1,046,821	G/T	—	uncertain significance
rs748191742	19:1,046,862	G/A	—	uncertain significance
rs1458854465	19:1,046,872	C/T	—	uncertain significance
rs757604052	19:1,046,890	G/C	—	uncertain significance
rs2040737556	19:1,046,894	G/C	—	uncertain significance
rs144979723	19:1,046,944	C/T	—	likely benign
rs368652784	19:1,046,945	G/A	—	likely benign
rs746307442	19:1,046,954	G/T	—	risk factor
rs372585006	19:1,046,973	T/C	—	uncertain significance
rs200420300	19:1,047,016	T/C	—	uncertain significance
rs4147910	19:1,047,078	A/G	regulatory region variant	—
rs370356161	19:1,047,166	T/A	—	uncertain significance
rs774426467	19:1,047,172	C/T	—	uncertain significance
rs756068054	19:1,047,187	G/A	—	uncertain significance
rs374324671	19:1,047,212	C/T	—	likely benign
rs2512298644	19:1,047,219	G/T	—	uncertain significance
rs1408562566	19:1,047,239	C/T	—	likely benign
rs1555684859	19:1,047,253	C/T	—	uncertain significance
rs556978394	19:1,047,262	C/G	—	uncertain significance
rs1279091865	19:1,047,268	C/T	—	uncertain significance
rs141937680	19:1,047,280	C/T	—	uncertain significance
rs2512299860	19:1,047,289	G/A	—	uncertain significance
rs3752238	19:1,047,317	G/A	—	benign
rs59851484	19:1,047,336	G/A	—	benign
rs762748648	19:1,047,356	C/T	—	likely benign
rs200288020	19:1,047,377	G/A	—	likely benign
rs114260315	19:1,047,448	G/T	—	likely benign
rs374826277	19:1,047,470	G/T	—	uncertain significance
rs2512302715	19:1,047,518	G/A	—	uncertain significance
rs3752239	19:1,047,537	A/C	—	benign
rs2040830334	19:1,047,542	G/A	—	uncertain significance
rs368240505	19:1,047,555	C/T	—	uncertain significance
rs764513501	19:1,047,560	G/T	—	likely benign
rs371632814	19:1,047,609	C/A	—	uncertain significance
rs1326413446	19:1,047,647	T/C	—	uncertain significance
rs76282929	19:1,048,898	G/C	—	benign
rs751421390	19:1,048,902	G/A	—	uncertain significance
rs149949633	19:1,048,950	G/T	—	likely pathogenic

Showing 100 of 291 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.