COL5A2

collagen type V alpha 2 chain

Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]

Known Variants1,573 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs113513554	2:189,896,665	A/T	—	likely benign
rs77821675	2:189,896,734	C/T	—	likely benign
rs548360577	2:189,896,826	A/C	—	uncertain significance
rs886055346	2:189,896,835	A/G	—	uncertain significance
rs76482660	2:189,896,836	T/C	—	likely benign
rs75096234	2:189,896,892	G/A	—	likely benign
rs886055347	2:189,896,902	G/T	—	uncertain significance
rs116255986	2:189,896,944	A/G	—	likely benign
rs554165132	2:189,897,032	C/A	—	conflicting classifications of pathogenicity
rs76151083	2:189,897,127	C/T	—	likely benign
rs772852972	2:189,897,128	G/C	—	uncertain significance
rs886055348	2:189,897,331	C/A	—	uncertain significance
rs886055349	2:189,897,336	T/A	—	uncertain significance
rs11186	2:189,897,394	A/C	—	likely benign
rs12886	2:189,897,396	T/C	—	likely benign
rs114330868	2:189,897,417	T/C	—	likely benign
rs146947961	2:189,897,465	G/C	—	likely benign
rs13914	2:189,897,631	C/T	—	likely benign
rs114123906	2:189,897,720	C/T	—	likely benign
rs539647365	2:189,897,857	C/A	—	uncertain significance
rs778818824	2:189,897,892	T/G	—	conflicting classifications of pathogenicity
rs72902303	2:189,897,948	A/G	—	conflicting classifications of pathogenicity
rs116775405	2:189,897,998	T/C	—	likely benign
rs886055350	2:189,898,080	T/C	—	uncertain significance
rs73981487	2:189,898,157	C/T	—	likely benign
rs564981830	2:189,898,235	A/G	—	likely benign
rs10195176	2:189,898,271	T/C	—	benign
rs113311693	2:189,898,281	G/A	—	likely benign
rs138670180	2:189,898,320	A/G	—	benign
rs570467727	2:189,898,350	C/T	—	likely benign
rs149313073	2:189,898,360	T/C	—	benign
rs77413180	2:189,898,373	G/A	—	likely benign
rs886055352	2:189,898,395	T/G	—	uncertain significance
rs1131518	2:189,898,404	A/G	—	likely benign
rs143552248	2:189,898,405	T/C	—	likely benign
rs7586	2:189,898,498	C/T	—	likely benign
rs776264833	2:189,898,585	A/T	—	uncertain significance
rs755412373	2:189,898,670	T/C	—	uncertain significance
rs112739705	2:189,898,750	G/T	—	likely benign
rs199758990	2:189,898,777	C/T	—	likely benign
rs1249280287	2:189,898,799	C/T	—	likely benign
rs527433112	2:189,898,801	C/A	—	conflicting classifications of pathogenicity
rs150145051	2:189,898,805	A/G	—	likely benign
rs1452910575	2:189,898,811	T/A	—	likely benign
rs1227167162	2:189,898,818	A/G	—	uncertain significance
rs2469206813	2:189,898,820	T/G	—	uncertain significance
rs200703515	2:189,898,825	C/T	—	likely benign
rs142895373	2:189,898,826	G/A	—	likely benign
rs775322653	2:189,898,828	C/T	—	uncertain significance
rs531204336	2:189,898,829	G/A	—	likely benign
rs2469206888	2:189,898,832	T/C	—	likely benign
rs371225266	2:189,898,841	T/C	—	likely benign
rs11553463	2:189,898,843	T/G	—	likely benign
rs761481937	2:189,898,845	C/T	—	uncertain significance
rs147420365	2:189,898,846	C/T	—	conflicting classifications of pathogenicity
rs78905646	2:189,898,847	G/A	—	likely benign
rs142857608	2:189,898,853	A/G	—	likely benign
rs863223499	2:189,898,858	C/G	—	uncertain significance
rs2469207106	2:189,898,859	A/G	—	likely benign
rs1467804869	2:189,898,868	A/G	—	likely benign
rs2153505892	2:189,898,869	T/C	—	uncertain significance
rs1033836182	2:189,898,872	A/G	—	conflicting classifications of pathogenicity
rs886039069	2:189,898,873	T/C	—	uncertain significance
rs1685395368	2:189,898,874	G/C	—	uncertain significance
rs1163031439	2:189,898,876	T/C	—	uncertain significance
rs2469207185	2:189,898,879	G/A	—	uncertain significance
rs1193385199	2:189,898,880	C/T	—	likely benign
rs781760462	2:189,898,884	C/T	—	conflicting classifications of pathogenicity
rs1430667498	2:189,898,885	G/A	—	conflicting classifications of pathogenicity
rs140109751	2:189,898,887	G/A	—	conflicting classifications of pathogenicity
rs753194366	2:189,898,888	C/T	—	likely benign
rs756550702	2:189,898,894	T/C	—	conflicting classifications of pathogenicity
rs2469207250	2:189,898,896	T/C	—	uncertain significance
rs1458452446	2:189,898,901	T/C	—	likely benign
rs142544320	2:189,898,904	A/G	—	conflicting classifications of pathogenicity
rs146100075	2:189,898,907	T/C	—	likely benign
rs1685396293	2:189,898,908	T/C	—	uncertain significance
rs368234550	2:189,898,913	G/C	—	likely benign
rs1266828570	2:189,898,917	G/A	—	uncertain significance
rs1553512315	2:189,898,922	G/A	—	uncertain significance
rs745935107	2:189,898,927	C/T	—	conflicting classifications of pathogenicity
rs1576482924	2:189,898,928	A/G	—	likely benign
rs1559070958	2:189,898,932	C/T	—	likely pathogenic
rs372170366	2:189,898,934	A/T	—	conflicting classifications of pathogenicity
rs149064715	2:189,898,938	C/T	—	conflicting classifications of pathogenicity
rs760569641	2:189,898,939	G/A	—	uncertain significance
rs1576482939	2:189,898,948	A/T	—	likely benign
rs568113641	2:189,898,962	T/C	—	likely benign
rs56339059	2:189,899,079	G/A	—	likely benign
rs79420523	2:189,899,117	C/G	—	likely benign
rs77944362	2:189,899,242	T/A	—	likely benign
rs76648666	2:189,899,338	G/A	—	likely benign
rs4666770	2:189,899,541	T/C	—	benign
rs7420715	2:189,899,572	T/C	—	benign
rs78854855	2:189,899,573	G/A	—	benign
rs758506664	2:189,899,622	G/A	—	likely benign
rs1685412318	2:189,899,626	A/G	—	likely benign
rs375110145	2:189,899,627	T/A	—	likely benign
rs747000973	2:189,899,628	C/G	—	likely benign
rs1327314266	2:189,899,629	A/T	—	likely benign

Showing 100 of 1,573 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.