ADAMTS14

ADAM metallopeptidase with thrombospondin type 1 motif 14

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]

Known Variants120 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77711785710:72,432,613T/A—uncertain significance
rs77406565210:72,432,614G/C—uncertain significance
rs37295344310:72,432,619G/A—uncertain significance
rs101830934310:72,432,622G/T—uncertain significance
rs99084372610:72,434,360G/A—uncertain significance
rs11439299910:72,434,374C/T—uncertain significance
rs37419795410:72,434,380C/T—uncertain significance
rs76457135210:72,434,479C/T—uncertain significance
rs14598285410:72,434,507G/A—uncertain significance
rs77225318410:72,434,529G/T—uncertain significance
rs14544866210:72,434,587C/T—uncertain significance
rs14527686610:72,434,594G/A—uncertain significance
rs249355850210:72,434,621G/T—uncertain significance
rs76354532110:72,434,650C/T—uncertain significance
rs75245621410:72,434,663G/A—uncertain significance
rs14071139010:72,434,674C/T—likely benign
rs14770296610:72,434,675G/A—likely benign
rs74840570410:72,434,710A/G—uncertain significance
rs14495682410:72,434,745C/T—benign
rs20160510910:72,462,069C/T—conflicting classifications of pathogenicity
rs14125941210:72,462,171G/A—uncertain significance
rs128316620310:72,462,187G/T—uncertain significance
rs1760064210:72,462,994C/T——
rs11486580810:72,468,399C/T—benign
rs75064700710:72,468,400G/T—uncertain significance
rs20218331310:72,468,410G/A—uncertain significance
rs77728679310:72,468,434G/A—uncertain significance
rs14529765010:72,468,447C/T—likely benign
rs77842236710:72,468,523C/T—uncertain significance
rs7895297910:72,468,537G/A—benign
rs181600210:72,483,010T/A——
rs213266768610:72,489,055T/G—uncertain significance
rs14563269410:72,489,084T/C—likely benign
rs20192230410:72,489,108G/A—uncertain significance
rs76384163610:72,489,873G/A—uncertain significance
rs77505559310:72,489,912C/T—uncertain significance
rs77174878710:72,489,919C/T—uncertain significance
rs14063423810:72,489,984C/T—uncertain significance
rs14448386010:72,492,011G/A—likely benign
rs74782460910:72,492,018C/T—uncertain significance
rs249375216910:72,492,096G/A—uncertain significance
rs249375892010:72,493,642C/T—uncertain significance
rs77214539810:72,493,645G/A—uncertain significance
rs77033335310:72,493,709C/A—uncertain significance
rs184173699010:72,493,722G/A—likely benign
rs20132679010:72,493,748C/T—uncertain significance
rs14144293610:72,493,750C/T—uncertain significance
rs75822053610:72,493,775G/A—uncertain significance
rs120062327910:72,494,936G/A—uncertain significance
rs74727694510:72,495,014A/C—uncertain significance
rs74962760910:72,495,047C/A—uncertain significance
rs20009012710:72,495,050G/T—uncertain significance
rs77856835210:72,496,479C/A—uncertain significance
rs20044150510:72,496,488C/T—uncertain significance
rs55355722610:72,496,514C/A—uncertain significance
rs77641375110:72,496,544G/A—uncertain significance
rs249203550210:72,498,617G/A—uncertain significance
rs18208411010:72,498,646G/A—uncertain significance
rs52851928310:72,498,695G/A—uncertain significance
rs1082360710:72,500,763T/Cmissense variant—
rs77471503610:72,500,783G/A—uncertain significance
rs148830775110:72,500,804G/A—uncertain significance
rs77587767010:72,500,835G/A—uncertain significance
rs249205074010:72,500,870G/A—uncertain significance
rs75951921310:72,500,892G/A—uncertain significance
rs37662032510:72,500,906G/A—uncertain significance
rs75488830610:72,500,909C/A—uncertain significance
rs37429848210:72,503,306G/A—likely benign
rs37420715310:72,503,388G/A—uncertain significance
rs14900184510:72,503,414G/A—uncertain significance
rs37261063910:72,503,828G/T—uncertain significance
rs37183883510:72,503,840G/A—uncertain significance
rs132617445110:72,503,909G/A—uncertain significance
rs76240158910:72,503,916G/A—uncertain significance
rs36919294410:72,503,919C/T—uncertain significance
rs14117288810:72,505,060T/C—uncertain significance
rs89534313710:72,509,587A/G—uncertain significance
rs77287923910:72,509,598G/A—uncertain significance
rs14405453210:72,509,640C/T—uncertain significance
rs77057686710:72,509,719T/C—uncertain significance
rs14285236010:72,509,721C/T—uncertain significance
rs18394258010:72,511,241C/G—uncertain significance
rs52809548910:72,511,243C/T—uncertain significance
rs37522315310:72,511,246A/G—likely benign
rs76463674510:72,511,261C/T—uncertain significance
rs14610518810:72,511,262G/A—uncertain significance
rs75002238410:72,511,285G/A—likely benign
rs20104998610:72,511,946C/T—uncertain significance
rs19977153010:72,511,949C/T—uncertain significance
rs74705904510:72,511,953G/A—uncertain significance
rs74971837410:72,511,959A/G—uncertain significance
rs20116162810:72,511,968C/T—likely benign
rs14780729810:72,513,576G/A—uncertain significance
rs56392452610:72,513,608G/C—uncertain significance
rs37445819810:72,513,618G/A—uncertain significance
rs135072337810:72,513,627A/G—uncertain significance
rs135118278610:72,513,636T/C—uncertain significance
rs36864745810:72,513,641C/A—uncertain significance
rs14345640010:72,513,648A/G—uncertain significance
rs75221549910:72,513,686G/A—uncertain significance

Showing 100 of 120 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.