COL15A1

collagen type XV alpha 1 chain

Summary

This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]

Known Variants158 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs911930	9:101,698,416	T/A	—	—
rs2118725299	9:101,706,438	T/G	—	not provided
rs577588200	9:101,706,507	T/C	—	likely benign
rs145179644	9:101,706,523	G/T	—	uncertain significance
rs758313397	9:101,706,530	C/T	—	uncertain significance
rs199761983	9:101,706,541	C/A	—	likely benign
rs10988442	9:101,739,709	A/G	intron variant	—
rs377632543	9:101,747,879	C/A	—	uncertain significance
rs115245175	9:101,747,885	A/G	—	benign
rs577671129	9:101,747,888	G/A	—	uncertain significance
rs994542363	9:101,747,917	T/C	—	likely benign
rs770970455	9:101,747,953	C/T	—	likely benign
rs770735842	9:101,747,954	G/C	—	uncertain significance
rs759476425	9:101,747,963	G/A	—	uncertain significance
rs2490732212	9:101,748,005	T/C	—	uncertain significance
rs141708640	9:101,748,019	C/T	—	likely benign
rs1235328639	9:101,748,021	C/T	—	uncertain significance
rs2490732253	9:101,748,027	G/A	—	uncertain significance
rs370081942	9:101,748,032	G/A	—	likely benign
rs368284198	9:101,748,048	G/C	—	uncertain significance
rs774763433	9:101,748,144	G/A	—	uncertain significance
rs781031691	9:101,748,207	T/G	—	uncertain significance
rs767075199	9:101,748,212	G/T	—	uncertain significance
rs2075662	9:101,748,234	G/A	—	benign
rs781086307	9:101,748,282	G/A	—	uncertain significance
rs113791685	9:101,748,317	T/C	—	benign
rs2075663	9:101,748,356	A/G	—	benign
rs144123375	9:101,748,383	G/A	—	uncertain significance
rs80261930	9:101,749,581	T/C	—	benign
rs113628613	9:101,749,597	G/A	—	benign
rs534707257	9:101,749,620	C/T	—	likely benign
rs147914103	9:101,749,644	G/T	—	uncertain significance
rs2075665	9:101,749,943	A/T	intron variant	—
rs141627451	9:101,751,510	C/G	—	uncertain significance
rs191757905	9:101,751,513	A/T	—	uncertain significance
rs536611869	9:101,751,516	A/G	—	likely benign
rs147097210	9:101,751,520	G/A	—	uncertain significance
rs199912399	9:101,759,216	C/A	—	uncertain significance
rs79301478	9:101,759,263	C/G	—	benign
rs376723761	9:101,759,281	G/T	—	uncertain significance
rs199642254	9:101,759,284	A/C	—	uncertain significance
rs3818760	9:101,759,372	G/A	—	benign
rs57410362	9:101,762,528	C/T	intron variant	—
rs766110833	9:101,763,156	G/C	—	uncertain significance
rs750209593	9:101,763,180	A/G	—	uncertain significance
rs778982631	9:101,763,191	C/T	—	likely benign
rs752685061	9:101,765,747	A/C	—	uncertain significance
rs2490766996	9:101,765,778	G/A	—	uncertain significance
rs755342492	9:101,765,795	G/A	—	uncertain significance
rs767448137	9:101,765,834	A/G	—	likely benign
rs903606036	9:101,765,835	T/C	—	uncertain significance
rs10988532	9:101,765,841	C/T	—	benign
rs148479358	9:101,767,228	G/A	—	likely benign
rs761575477	9:101,767,237	G/A	—	uncertain significance
rs34138827	9:101,767,245	G/A	—	benign
rs779626166	9:101,767,270	G/A	—	uncertain significance
rs370219945	9:101,767,279	G/A	—	uncertain significance
rs16918128	9:101,767,303	G/A	—	benign
rs145422418	9:101,767,311	C/T	—	benign
rs35934703	9:101,767,315	G/A	—	benign
rs41305481	9:101,767,385	A/G	intron variant	—
rs12380469	9:101,767,984	G/A	intron variant	—
rs11515536	9:101,771,183	C/A	—	—
rs12379014	9:101,771,774	T/C	intron variant	—
rs150243247	9:101,777,715	A/G	—	likely benign
rs767034635	9:101,777,781	G/T	—	uncertain significance
rs1263785600	9:101,777,826	C/T	—	uncertain significance
rs778700512	9:101,777,831	G/A	—	uncertain significance
rs2297603	9:101,778,265	T/G	—	benign
rs35250850	9:101,778,272	A/C	—	benign
rs35529307	9:101,778,346	C/G	—	benign
rs141284607	9:101,778,358	C/T	—	uncertain significance
rs373900418	9:101,784,391	C/T	—	uncertain significance
rs377293812	9:101,784,401	C/G	—	uncertain significance
rs781088519	9:101,784,410	C/T	—	uncertain significance
rs1564062212	9:101,784,419	C/T	—	uncertain significance
rs139024384	9:101,784,431	C/T	—	uncertain significance
rs3739800	9:101,784,438	A/G	—	benign
rs369198993	9:101,785,630	T/C	—	likely benign
rs7851787	9:101,785,633	C/T	—	benign
rs147463312	9:101,785,658	G/T	—	uncertain significance
rs142863109	9:101,785,666	C/T	—	likely benign
rs145460696	9:101,785,675	G/A	—	uncertain significance
rs199674083	9:101,785,679	C/G	—	uncertain significance
rs867253716	9:101,785,730	G/A	—	uncertain significance
rs1839093810	9:101,787,168	C/T	—	uncertain significance
rs756404008	9:101,787,205	A/G	—	uncertain significance
rs777857128	9:101,787,206	A/C	—	uncertain significance
rs115739281	9:101,787,234	C/T	—	benign
rs568622902	9:101,787,241	C/G	—	uncertain significance
rs2490805168	9:101,787,259	C/T	—	uncertain significance
rs138655830	9:101,787,280	C/T	—	benign
rs758748658	9:101,788,209	T/C	—	likely benign
rs201022302	9:101,788,219	A/G	—	uncertain significance
rs377027482	9:101,788,228	C/T	—	uncertain significance
rs140757478	9:101,788,247	A/T	—	uncertain significance
rs1218065653	9:101,796,838	G/A	—	uncertain significance
rs41308900	9:101,797,330	C/T	—	benign
rs41310085	9:101,797,341	G/A	—	uncertain significance
rs142089094	9:101,797,356	C/T	—	likely benign

Showing 100 of 158 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.