ACBD5

acyl-CoA binding domain containing 5

Summary

This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants348 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2136474628	10:27,486,362	G/A	—	likely benign
rs2540155612	10:27,486,367	G/A	—	likely benign
rs16927620	10:27,486,558	C/G	—	benign
rs788232	10:27,486,668	C/T	—	benign
rs10764688	10:27,486,669	G/A	—	benign
rs78148492	10:27,493,161	A/G	—	benign
rs7910237	10:27,493,204	A/G	—	benign
rs756399571	10:27,493,361	G/A	—	likely benign
rs377602962	10:27,493,362	G/C	—	likely benign
rs2540389570	10:27,493,367	A/T	—	uncertain significance
rs757515357	10:27,493,397	C/T	—	uncertain significance
rs746329483	10:27,493,409	C/A	—	uncertain significance
rs2540392429	10:27,493,419	C/T	—	pathogenic
rs2060261269	10:27,493,424	T/G	—	uncertain significance
rs772621096	10:27,493,427	T/C	—	likely benign
rs747726422	10:27,493,434	C/T	—	likely benign
rs200146409	10:27,493,435	G/A	—	uncertain significance
rs2540393631	10:27,493,438	A/G	—	uncertain significance
rs1428501267	10:27,493,446	A/G	—	likely benign
rs772689167	10:27,493,451	A/G	—	uncertain significance
rs144945606	10:27,493,457	C/T	—	uncertain significance
rs774247623	10:27,493,462	G/A	—	uncertain significance
rs372635761	10:27,493,463	G/A	—	uncertain significance
rs1564574359	10:27,493,467	C/T	—	conflicting classifications of pathogenicity
rs2060267260	10:27,493,478	T/C	—	uncertain significance
rs2540396176	10:27,493,490	C/T	—	likely benign
rs922018375	10:27,493,493	T/C	—	likely benign
rs12570662	10:27,493,648	G/A	—	benign
rs10829209	10:27,493,692	T/G	—	benign
rs788205	10:27,493,781	G/A	—	benign
rs2540419835	10:27,494,108	T/G	—	likely benign
rs774011677	10:27,494,112	T/A	—	likely benign
rs547731619	10:27,494,113	A/T	—	likely benign
rs2136837325	10:27,494,130	T/G	—	likely benign
rs368092255	10:27,494,146	G/A	—	uncertain significance
rs201036937	10:27,494,147	C/A	—	uncertain significance
rs1371798090	10:27,494,153	G/T	—	uncertain significance
rs1429846088	10:27,494,155	A/G	—	uncertain significance
rs138723362	10:27,494,156	A/T	—	uncertain significance
rs367600532	10:27,494,157	T/A	—	likely benign
rs2540423279	10:27,494,163	T/C	—	likely benign
rs765565984	10:27,494,169	T/C	—	likely benign
rs750618594	10:27,494,171	A/C	—	uncertain significance
rs2540423816	10:27,494,179	T/G	—	likely pathogenic
rs758707664	10:27,494,180	G/A	—	uncertain significance
rs766758680	10:27,494,196	G/A	—	likely benign
rs6482604	10:27,496,953	G/C	—	benign
rs7919523	10:27,497,074	T/C	—	benign
rs2136963436	10:27,497,162	T/A	—	likely benign
rs1349490446	10:27,497,182	G/A	—	uncertain significance
rs2540512860	10:27,497,187	C/A	—	likely benign
rs951430301	10:27,497,188	A/G	—	uncertain significance
rs77127632	10:27,497,190	C/T	—	likely benign
rs7918793	10:27,497,191	A/G	—	benign
rs1465331573	10:27,497,205	C/T	—	likely benign
rs746920760	10:27,497,223	C/G	—	uncertain significance
rs2540514069	10:27,497,226	C/T	—	uncertain significance
rs2540514166	10:27,497,228	T/C	—	uncertain significance
rs761888781	10:27,497,244	C/G	—	uncertain significance
rs1468532582	10:27,497,245	A/G	—	uncertain significance
rs1056013477	10:27,497,252	C/T	—	uncertain significance
rs189115180	10:27,497,253	G/A	—	likely benign
rs749212781	10:27,497,258	C/T	—	uncertain significance
rs181926234	10:27,497,259	G/A	—	likely benign
rs755472165	10:27,497,278	C/T	—	uncertain significance
rs2060687838	10:27,497,279	C/G	—	uncertain significance
rs1426447692	10:27,497,282	G/A	—	pathogenic
rs144860164	10:27,497,294	C/T	—	uncertain significance
rs778319933	10:27,497,295	G/A	—	likely benign
rs377281055	10:27,497,300	C/T	—	uncertain significance
rs758175108	10:27,497,305	C/A	—	uncertain significance
rs779982287	10:27,497,306	G/A	—	uncertain significance
rs148555426	10:27,497,308	T/G	—	uncertain significance
rs781128539	10:27,497,311	C/T	—	uncertain significance
rs1589075873	10:27,497,312	C/A	—	uncertain significance
rs773326165	10:27,497,330	C/T	—	uncertain significance
rs2540520556	10:27,497,333	G/A	—	pathogenic
rs369898700	10:27,497,336	G/A	—	uncertain significance
rs774559584	10:27,497,341	T/C	—	uncertain significance
rs147305464	10:27,497,345	T/G	—	likely benign
rs376322028	10:27,497,349	T/C	—	likely benign
rs140366816	10:27,497,352	G/A	—	benign
rs2060701969	10:27,497,356	A/G	—	uncertain significance
rs2060702940	10:27,497,361	T/A	—	uncertain significance
rs2060703537	10:27,497,367	C/T	—	likely benign
rs2136973066	10:27,497,369	T/C	—	uncertain significance
rs748094354	10:27,497,381	T/C	—	likely benign
rs7919198	10:27,497,485	G/A	—	benign
rs12246088	10:27,497,542	G/A	—	benign
rs12246158	10:27,497,628	G/A	—	benign
rs117615378	10:27,499,673	C/A	—	benign
rs76818131	10:27,499,709	A/G	—	benign
rs2137055604	10:27,499,730	A/G	—	likely benign
rs2540595204	10:27,499,735	A/G	—	likely benign
rs755904341	10:27,499,740	C/T	—	uncertain significance
rs867451420	10:27,499,742	C/T	—	pathogenic
rs144318021	10:27,499,763	G/C	—	uncertain significance
rs775919799	10:27,499,765	G/C	—	uncertain significance
rs201249215	10:27,499,769	T/C	—	conflicting classifications of pathogenicity
rs777230785	10:27,499,770	C/T	—	uncertain significance

Showing 100 of 348 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.