COL6A5

collagen type VI alpha 5 chain

Summary

This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Known Variants170 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs928641215	3:130,095,086	G/A	—	uncertain significance
rs748352703	3:130,095,127	G/A	—	uncertain significance
rs764962068	3:130,095,164	C/T	—	uncertain significance
rs772312144	3:130,095,214	C/T	—	uncertain significance
rs372533610	3:130,095,241	G/A	—	likely benign
rs1173403411	3:130,095,269	C/T	—	uncertain significance
rs758837638	3:130,095,278	G/T	—	uncertain significance
rs575322112	3:130,095,328	G/T	—	uncertain significance
rs749284239	3:130,095,421	A/G	—	uncertain significance
rs6787083	3:130,095,492	C/T	—	benign
rs557460823	3:130,095,494	G/A	—	uncertain significance
rs771904641	3:130,095,511	G/A	—	uncertain significance
rs754088234	3:130,095,581	G/A	—	uncertain significance
rs566688640	3:130,095,670	G/C	—	uncertain significance
rs558631068	3:130,098,344	T/G	—	uncertain significance
rs2472847520	3:130,098,374	A/C	—	uncertain significance
rs1167029734	3:130,098,435	A/G	—	likely benign
rs2472847761	3:130,098,456	T/G	—	uncertain significance
rs757739603	3:130,098,514	C/G	—	uncertain significance
rs2472848239	3:130,098,567	G/A	—	uncertain significance
rs140721388	3:130,098,623	C/G	—	conflicting classifications of pathogenicity
rs151095015	3:130,098,653	G/T	—	benign
rs201166929	3:130,098,695	G/A	—	likely benign
rs2472848794	3:130,098,719	G/C	—	uncertain significance
rs114174330	3:130,098,809	A/G	—	uncertain significance
rs1324410648	3:130,103,650	G/A	—	uncertain significance
rs766309238	3:130,103,652	G/T	—	uncertain significance
rs1196335373	3:130,103,675	C/G	—	uncertain significance
rs375567738	3:130,103,941	T/C	—	uncertain significance
rs1187130453	3:130,103,949	G/A	—	uncertain significance
rs764908964	3:130,103,979	T/G	—	uncertain significance
rs772701943	3:130,104,015	G/A	—	uncertain significance
rs2472861293	3:130,104,028	A/G	—	uncertain significance
rs187763987	3:130,104,042	C/T	—	likely benign
rs10212241	3:130,104,062	T/C	—	benign
rs1288968128	3:130,104,084	G/A	—	uncertain significance
rs550103989	3:130,104,157	C/T	—	uncertain significance
rs373316951	3:130,104,183	G/A	—	likely benign
rs10212372	3:130,104,206	A/G	—	benign
rs1438273337	3:130,107,434	A/G	—	uncertain significance
rs9882852	3:130,107,482	A/C	—	benign
rs772531743	3:130,107,522	T/C	—	uncertain significance
rs144238271	3:130,107,567	T/G	—	likely benign
rs575837767	3:130,107,606	T/C	—	likely benign
rs913369582	3:130,107,806	A/G	—	uncertain significance
rs1393082594	3:130,107,815	C/T	—	uncertain significance
rs748644157	3:130,107,819	G/A	—	likely benign
rs2472870553	3:130,107,830	A/G	—	uncertain significance
rs778693503	3:130,107,960	G/A	—	uncertain significance
rs565870843	3:130,110,015	C/T	—	likely benign
rs2472875563	3:130,110,099	C/T	—	uncertain significance
rs1031859079	3:130,110,102	A/G	—	uncertain significance
rs372139907	3:130,110,154	G/A	—	uncertain significance
rs975591290	3:130,110,175	A/G	—	likely benign
rs2472875861	3:130,110,195	A/G	—	likely benign
rs374746006	3:130,110,197	C/G	—	conflicting classifications of pathogenicity
rs201679998	3:130,110,220	C/T	—	uncertain significance
rs558777872	3:130,110,250	G/A	—	uncertain significance
rs2472876252	3:130,110,294	C/T	—	uncertain significance
rs1346832250	3:130,110,397	A/G	—	likely benign
rs1365249537	3:130,110,573	C/T	—	conflicting classifications of pathogenicity
rs190666668	3:130,113,771	G/A	—	conflicting classifications of pathogenicity
rs2472885986	3:130,113,794	T/G	—	uncertain significance
rs1445602580	3:130,113,830	C/G	—	uncertain significance
rs1014222019	3:130,113,849	A/G	—	uncertain significance
rs781494208	3:130,113,879	G/C	—	uncertain significance
rs370910619	3:130,113,975	G/A	—	likely benign
rs988755866	3:130,113,993	G/T	—	uncertain significance
rs1411284367	3:130,114,172	T/A	—	uncertain significance
rs761857117	3:130,114,228	T/C	—	uncertain significance
rs543746446	3:130,114,278	C/T	—	conflicting classifications of pathogenicity
rs115380050	3:130,114,290	C/T	—	likely benign
rs1936645080	3:130,116,435	A/G	—	likely benign
rs180696258	3:130,116,437	G/A	—	uncertain significance
rs756549440	3:130,116,456	G/A	—	uncertain significance
rs2472893457	3:130,116,493	A/G	—	uncertain significance
rs944402654	3:130,116,498	C/T	—	uncertain significance
rs779265460	3:130,116,525	G/A	—	uncertain significance
rs1291702202	3:130,116,705	A/G	—	uncertain significance
rs74695611	3:130,116,707	C/A	—	uncertain significance
rs915176448	3:130,116,720	C/T	—	uncertain significance
rs377088930	3:130,116,721	G/A	—	likely benign
rs944476228	3:130,116,760	G/A	—	uncertain significance
rs1204199518	3:130,119,881	A/G	—	uncertain significance
rs181508978	3:130,120,027	T/G	—	likely benign
rs370632529	3:130,120,633	T/G	—	uncertain significance
rs535294106	3:130,124,495	G/A	—	uncertain significance
rs199982553	3:130,124,844	A/G	—	likely benign
rs4688761	3:130,124,989	C/T	synonymous variant	—
rs906919907	3:130,125,118	C/T	—	uncertain significance
rs1936992476	3:130,125,157	G/A	—	uncertain significance
rs772303994	3:130,128,195	C/A	—	uncertain significance
rs887135551	3:130,128,204	A/G	—	uncertain significance
rs35886424	3:130,129,322	G/C	—	benign
rs972598074	3:130,129,330	A/C	—	uncertain significance
rs1937139326	3:130,129,351	A/G	—	uncertain significance
rs1389031294	3:130,129,364	G/A	—	uncertain significance
rs56014961	3:130,132,904	G/C	—	likely benign
rs2472941171	3:130,134,522	A/G	—	uncertain significance
rs939050525	3:130,135,602	G/C	—	uncertain significance

Showing 100 of 170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.