ABCB7

ATP binding cassette subfamily B member 7

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 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

Known Variants189 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs916633787	X:74,273,092	T/C	—	uncertain significance
rs2081210284	X:74,273,208	G/A	—	likely benign
rs372891558	X:74,273,212	G/A	—	benign
rs201924920	X:74,273,254	T/C	—	uncertain significance
rs2519802442	X:74,273,260	T/G	—	uncertain significance
rs1434162226	X:74,273,263	T/G	—	uncertain significance
rs863223869	X:74,273,278	T/C	—	uncertain significance
rs752787356	X:74,273,312	G/T	—	benign
rs949445106	X:74,273,332	C/T	—	uncertain significance
rs2519802637	X:74,273,343	T/C	—	likely benign
rs781524899	X:74,273,391	A/G	—	uncertain significance
rs768257406	X:74,273,398	G/A	—	uncertain significance
rs2519802718	X:74,273,401	C/T	—	uncertain significance
rs2081212161	X:74,273,404	C/T	—	uncertain significance
rs936800740	X:74,273,409	G/A	—	likely benign
rs797044558	X:74,273,420	C/T	missense variant	pathogenic
rs778556688	X:74,273,428	G/A	—	likely benign
rs2519802784	X:74,273,437	T/G	—	likely benign
rs142425608	X:74,273,444	C/T	—	likely benign
rs769374153	X:74,273,454	G/A	—	likely benign
rs28631497	X:74,273,689	G/C	—	likely benign
rs147195481	X:74,279,844	T/C	—	benign
rs73502896	X:74,280,041	A/T	—	benign
rs2519810043	X:74,280,079	A/G	—	likely benign
rs762876355	X:74,280,080	T/C	—	likely pathogenic
rs2519810114	X:74,280,133	T/C	—	uncertain significance
rs1224789584	X:74,280,144	C/A	—	likely benign
rs367870900	X:74,280,151	G/C	—	likely benign
rs1602330362	X:74,280,168	G/C	—	uncertain significance
rs2519810171	X:74,280,169	C/G	—	likely benign
rs952109184	X:74,280,172	G/A	—	conflicting classifications of pathogenicity
rs1196256085	X:74,280,181	T/C	—	likely benign
rs145497613	X:74,280,241	C/G	—	likely benign
rs6647618	X:74,280,385	C/T	—	benign
rs5981316	X:74,281,918	T/A	—	benign
rs750875059	X:74,282,155	T/C	—	benign
rs763223675	X:74,282,158	C/G	—	uncertain significance
rs1002483499	X:74,282,176	G/A	—	uncertain significance
rs756677240	X:74,282,277	A/G	—	uncertain significance
rs141339613	X:74,282,516	T/C	—	likely benign
rs144710934	X:74,282,532	A/T	—	likely benign
rs142796743	X:74,284,881	G/A	—	benign
rs1157926029	X:74,284,924	T/C	—	likely benign
rs141119655	X:74,284,934	T/C	—	conflicting classifications of pathogenicity
rs2081308033	X:74,284,965	T/C	—	uncertain significance
rs150273961	X:74,284,972	A/G	—	likely benign
rs2081308280	X:74,284,989	T/C	—	uncertain significance
rs1340990	X:74,284,996	T/C	—	benign
rs1340989	X:74,284,997	G/A	—	benign
rs766831597	X:74,284,998	C/T	—	conflicting classifications of pathogenicity
rs184486227	X:74,285,013	G/A	—	benign
rs1456861126	X:74,285,023	G/T	—	likely benign
rs985304447	X:74,285,047	A/G	—	likely benign
rs5981759	X:74,285,389	A/G	—	benign
rs5981760	X:74,288,514	T/C	—	benign
rs2519819495	X:74,288,827	T/C	—	likely benign
rs994888193	X:74,288,837	A/C	—	uncertain significance
rs143070182	X:74,288,864	C/T	—	conflicting classifications of pathogenicity
rs776026399	X:74,288,887	A/G	—	likely benign
rs199687417	X:74,288,912	T/C	—	benign
rs2519819644	X:74,288,936	T/C	—	uncertain significance
rs1365155083	X:74,288,950	T/C	—	likely benign
rs151288786	X:74,289,163	C/T	—	conflicting classifications of pathogenicity
rs1242447315	X:74,289,168	G/A	—	uncertain significance
rs863223864	X:74,289,169	G/A	—	uncertain significance
rs863223868	X:74,289,175	C/G	—	uncertain significance
rs2519820081	X:74,289,179	G/A	—	likely benign
rs2081345590	X:74,289,268	G/A	—	uncertain significance
rs776840777	X:74,289,287	G/C	—	uncertain significance
rs140207514	X:74,289,326	C/T	—	likely benign
rs5981317	X:74,289,344	C/T	—	benign
rs192930091	X:74,289,403	A/G	—	likely benign
rs45598734	X:74,290,245	A/G	—	likely benign
rs2519821708	X:74,290,250	T/G	—	uncertain significance
rs80356714	X:74,290,268	C/T	missense variant	pathogenic
rs1410518430	X:74,290,287	A/G	—	benign
rs1057518042	X:74,290,330	A/G	missense variant	pathogenic
rs80356713	X:74,290,334	C/A	missense variant	pathogenic
rs1175852840	X:74,290,335	T/C	—	uncertain significance
rs764550363	X:74,290,360	T/G	—	uncertain significance
rs1335485126	X:74,290,365	G/A	—	likely benign
rs1443391963	X:74,290,366	G/A	—	likely benign
rs1279767209	X:74,290,367	C/A	—	likely benign
rs2081363054	X:74,291,335	A/C	—	likely benign
rs763867013	X:74,291,348	C/T	—	likely benign
rs72554634	X:74,291,351	A/T	synonymous variant	benign
rs1052386741	X:74,291,352	A/G	—	uncertain significance
rs139311518	X:74,291,377	T/C	—	likely benign
rs1555945011	X:74,291,389	C/T	—	likely pathogenic
rs756266541	X:74,291,390	G/A	—	benign
rs1268328600	X:74,291,393	A/G	—	likely benign
rs2147465341	X:74,291,419	T/C	—	uncertain significance
rs2519823522	X:74,291,445	T/C	—	uncertain significance
rs962282106	X:74,291,449	A/G	—	likely benign
rs769334662	X:74,291,465	C/T	—	benign
rs1487673076	X:74,291,502	C/A	—	uncertain significance
rs779385966	X:74,291,522	C/G	—	likely benign
rs776356620	X:74,291,537	T/C	—	benign
rs144548601	X:74,291,727	G/C	—	likely benign
rs148980611	X:74,293,512	T/C	—	likely benign

Showing 100 of 189 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.