COL5A1

collagen type V alpha 1 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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Known Variants2,737 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs77163533	9:137,533,357	C/G	—	likely benign
rs12002283	9:137,533,436	C/T	—	likely benign
rs12002679	9:137,533,634	C/G	—	benign
rs555826102	9:137,533,652	C/G	—	likely benign
rs780212970	9:137,533,670	G/C	—	uncertain significance
rs886063669	9:137,533,677	G/T	—	uncertain significance
rs886063670	9:137,533,747	G/C	—	uncertain significance
rs574222596	9:137,533,785	G/A	—	likely benign
rs71483234	9:137,533,787	T/G	—	benign
rs183791719	9:137,533,835	C/T	—	benign
rs188194985	9:137,533,854	C/A	—	likely benign
rs886063672	9:137,533,895	G/T	—	uncertain significance
rs180741151	9:137,533,924	A/G	—	likely benign
rs374979485	9:137,533,997	G/A	—	likely benign
rs1057523091	9:137,534,001	G/T	—	likely benign
rs1554772552	9:137,534,017	G/A	—	conflicting classifications of pathogenicity
rs587780907	9:137,534,019	C/A	—	benign
rs1334351036	9:137,534,020	C/T	—	likely benign
rs769694875	9:137,534,030	C/G	—	likely benign
rs2132454719	9:137,534,033	C/A	—	uncertain significance
rs2132454722	9:137,534,034	A/G	—	pathogenic
rs2491093547	9:137,534,035	T/G	—	pathogenic
rs2491093552	9:137,534,036	G/T	—	pathogenic
rs1064796482	9:137,534,039	C/G	—	uncertain significance
rs1383699147	9:137,534,040	G/T	—	uncertain significance
rs1554772559	9:137,534,042	C/A	—	likely benign
rs368818087	9:137,534,045	T/G	—	uncertain significance
rs1831312551	9:137,534,048	C/A	—	likely benign
rs1460929040	9:137,534,049	C/G	—	uncertain significance
rs1166669897	9:137,534,050	G/T	—	uncertain significance
rs1317496381	9:137,534,052	T/C	—	uncertain significance
rs900216804	9:137,534,059	C/A	—	conflicting classifications of pathogenicity
rs1457110544	9:137,534,061	C/T	—	conflicting classifications of pathogenicity
rs1456650492	9:137,534,063	C/G	—	likely benign
rs2491093726	9:137,534,065	G/T	—	uncertain significance
rs1160540030	9:137,534,067	G/A	—	conflicting classifications of pathogenicity
rs995895784	9:137,534,068	C/A	—	uncertain significance
rs1029930975	9:137,534,069	G/C	—	likely benign
rs762625123	9:137,534,070	C/T	—	conflicting classifications of pathogenicity
rs1831314080	9:137,534,073	C/T	—	uncertain significance
rs1554772576	9:137,534,075	C/T	—	likely benign
rs2491093792	9:137,534,076	C/T	—	uncertain significance
rs773860969	9:137,534,078	G/A	—	likely benign
rs890143450	9:137,534,082	G/T	—	benign
rs1060502260	9:137,534,085	C/T	—	uncertain significance
rs1367516173	9:137,534,086	C/G	—	uncertain significance
rs761259908	9:137,534,090	G/A	—	conflicting classifications of pathogenicity
rs963245639	9:137,534,091	C/T	—	likely benign
rs548525119	9:137,534,094	C/T	—	likely benign
rs2132454969	9:137,534,095	C/T	—	uncertain significance
rs1831315694	9:137,534,096	C/T	—	likely benign
rs963540956	9:137,534,097	C/G	—	uncertain significance
rs863223467	9:137,534,098	C/A	—	conflicting classifications of pathogenicity
rs2491093987	9:137,534,100	C/G	—	likely benign
rs2491094003	9:137,534,104	T/A	—	uncertain significance
rs1831316527	9:137,534,107	T/G	—	pathogenic
rs2132455041	9:137,534,108	G/A	—	likely benign
rs1254852661	9:137,534,109	C/T	—	likely benign
rs1312200383	9:137,534,115	C/A	—	conflicting classifications of pathogenicity
rs2491094145	9:137,534,116	T/G	—	uncertain significance
rs1183265822	9:137,534,123	G/T	—	likely benign
rs2491094203	9:137,534,124	C/A	—	uncertain significance
rs1410664123	9:137,534,125	C/A	—	uncertain significance
rs886042620	9:137,534,127	C/T	—	uncertain significance
rs1320177911	9:137,534,128	C/A	—	conflicting classifications of pathogenicity
rs761238520	9:137,534,131	C/T	—	uncertain significance
rs1170658868	9:137,534,137	G/A	—	uncertain significance
rs2491094270	9:137,534,138	C/T	—	likely benign
rs2132455136	9:137,534,142	G/C	—	pathogenic
rs1429209325	9:137,534,149	G/A	—	likely benign
rs2132455152	9:137,534,152	C/A	—	likely benign
rs2491094335	9:137,534,153	C/G	—	likely benign
rs1831318716	9:137,534,156	G/A	—	likely benign
rs1831318965	9:137,534,158	G/A	—	likely benign
rs766664625	9:137,534,160	C/A	—	likely benign
rs186654380	9:137,534,179	G/A	—	benign
rs117721261	9:137,534,438	G/A	—	likely benign
rs758993596	9:137,542,321	C/T	—	uncertain significance
rs146717710	9:137,549,865	C/T	intron variant	—
rs7032489	9:137,559,775	C/T	—	—
rs7044529	9:137,568,051	C/G	—	—
rs10858268	9:137,582,487	C/T	—	benign
rs16832	9:137,582,580	A/G	—	benign
rs149632687	9:137,582,610	C/T	—	likely benign
rs72772548	9:137,582,724	T/C	—	benign
rs148294644	9:137,582,739	T/C	—	likely benign
rs1419494543	9:137,582,744	C/T	—	likely benign
rs746555918	9:137,582,748	G/A	—	likely benign
rs1554780148	9:137,582,755	C/G	—	uncertain significance
rs1833255504	9:137,582,757	G/C	—	likely pathogenic
rs2491239408	9:137,582,770	A/G	—	uncertain significance
rs149369116	9:137,582,774	C/T	—	conflicting classifications of pathogenicity
rs2132550837	9:137,582,775	C/T	—	likely benign
rs2132550843	9:137,582,776	T/G	—	uncertain significance
rs1588441009	9:137,582,777	G/A	—	likely benign
rs372168541	9:137,582,793	C/T	—	conflicting classifications of pathogenicity
rs79138021	9:137,582,797	A/G	—	conflicting classifications of pathogenicity
rs897432620	9:137,582,798	C/T	—	likely benign
rs763026096	9:137,582,805	G/C	—	uncertain significance
rs764431997	9:137,582,810	A/T	—	likely benign

Showing 100 of 2,737 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.