COL6A1

collagen type VI alpha 1 chain

Summary

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]

Known Variants1,418 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14135013021:47,401,057T/Cregulatory region variant—
rs18890966221:47,401,397C/T—likely benign
rs93366798621:47,401,498G/C—likely benign
rs98238269021:47,401,503G/C—likely benign
rs120343579621:47,401,508T/C—likely benign
rs129557818121:47,401,513T/C—likely benign
rs18634288221:47,401,523C/A—likely benign
rs53819849521:47,401,641G/A—likely benign
rs56872852421:47,401,662C/A—likely benign
rs88605714821:47,401,689G/A—uncertain significance
rs53580798321:47,401,700C/G—benign
rs37184258921:47,401,725C/T—benign
rs37009617721:47,401,746G/A—uncertain significance
rs88603849121:47,401,757C/A—likely benign
rs767121:47,401,760G/C—benign
rs37714236021:47,401,764C/T—uncertain significance
rs212345905921:47,401,765A/T—uncertain significance
rs130550424321:47,401,769G/A—uncertain significance
rs36956123321:47,401,773G/T—uncertain significance
rs160358914721:47,401,774G/A—uncertain significance
rs123551310221:47,401,777C/T—uncertain significance
rs155642346021:47,401,778G/A—uncertain significance
rs212345908321:47,401,779T/A—likely benign
rs252630535421:47,401,781C/G—uncertain significance
rs128013289021:47,401,783C/A—uncertain significance
rs74709465221:47,401,791C/G—benign
rs212345911721:47,401,800G/C—likely benign
rs145439705821:47,401,804G/A—uncertain significance
rs252630543421:47,401,807T/C—uncertain significance
rs77667894021:47,401,808G/T—uncertain significance
rs76010186121:47,401,810T/C—conflicting classifications of pathogenicity
rs117282078921:47,401,821G/A—likely benign
rs160358916721:47,401,822C/T—pathogenic
rs142101193221:47,401,825G/C—uncertain significance
rs146157711821:47,401,828G/A—likely benign
rs77594636221:47,401,832C/T—conflicting classifications of pathogenicity
rs14974129921:47,401,833G/A—likely benign
rs76720540221:47,401,838C/A—conflicting classifications of pathogenicity
rs15016525321:47,401,841C/T—conflicting classifications of pathogenicity
rs103152061321:47,401,843A/T—uncertain significance
rs252630551621:47,401,847C/T—uncertain significance
rs76605715921:47,401,849G/A—uncertain significance
rs75337157721:47,401,857C/A—uncertain significance
rs75498821221:47,401,860G/A—uncertain significance
rs156951755921:47,401,867T/G—uncertain significance
rs207770955421:47,401,873C/G—likely benign
rs55971782321:47,401,880T/C—likely benign
rs11417884921:47,401,881G/A—likely benign
rs52932929421:47,402,028C/G—likely benign
rs14933863621:47,402,309C/G—likely benign
rs6221549621:47,402,334T/C—benign
rs88604259921:47,402,542G/A—uncertain significance
rs135360997921:47,402,545C/G—uncertain significance
rs75609185021:47,402,551G/T—likely benign
rs37397233121:47,402,552C/T—likely benign
rs14557957721:47,402,555C/G—likely benign
rs76925889121:47,402,556G/A—likely benign
rs125991297421:47,402,558G/T—likely benign
rs117586281221:47,402,576G/A—likely benign
rs78620555521:47,402,578A/Cmissense variantpathogenic
rs207771474121:47,402,581C/G—uncertain significance
rs207771476621:47,402,585T/C—likely benign
rs88604318321:47,402,588G/C—uncertain significance
rs252630742621:47,402,602G/A—uncertain significance
rs52926658821:47,402,609G/A—likely benign
rs77506278221:47,402,612C/T—likely benign
rs76283963521:47,402,615C/G—uncertain significance
rs134831880621:47,402,616G/A—uncertain significance
rs14350285021:47,402,620C/A—conflicting classifications of pathogenicity
rs212346026021:47,402,628G/T—uncertain significance
rs143963359621:47,402,631A/G—conflicting classifications of pathogenicity
rs160358934221:47,402,635T/G—uncertain significance
rs148472585321:47,402,636C/G—likely benign
rs13796414721:47,402,652C/T—conflicting classifications of pathogenicity
rs102158847621:47,402,658A/G—uncertain significance
rs252630762321:47,402,661G/A—uncertain significance
rs207771528921:47,402,665A/C—uncertain significance
rs36782087021:47,402,673G/C—uncertain significance
rs252630767121:47,402,675C/G—uncertain significance
rs88604395421:47,402,676A/C—uncertain significance
rs212346031721:47,402,678G/A—likely pathogenic
rs37142594721:47,402,688C/T—conflicting classifications of pathogenicity
rs19973077921:47,402,692C/T—likely benign
rs37118326821:47,402,693C/T—likely benign
rs11655125921:47,402,916C/T—likely benign
rs18451557321:47,404,032C/G—likely benign
rs374699221:47,404,043G/C—benign
rs7948705621:47,404,126G/A—likely benign
rs20053788621:47,404,165C/T—likely benign
rs52862035521:47,404,166G/A—likely benign
rs207772446721:47,404,176C/T—uncertain significance
rs207772451721:47,404,189C/A—pathogenic
rs74881000421:47,404,190C/T—conflicting classifications of pathogenicity
rs142238555621:47,404,199C/T—pathogenic
rs77384514421:47,404,200G/A—conflicting classifications of pathogenicity
rs155642417721:47,404,202A/G—uncertain significance
rs77067179321:47,404,216C/T—conflicting classifications of pathogenicity
rs54042926621:47,404,217G/T—uncertain significance
rs56463308021:47,404,222C/T—benign
rs20132258121:47,404,223G/A—conflicting classifications of pathogenicity

Showing 100 of 1,418 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.