THSD1

thrombospondin type 1 domain containing 1

Summary

The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]

Known Variants76 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75280729713:52,951,614C/G—uncertain significance
rs195764198213:52,951,658G/A—uncertain significance
rs195764308813:52,951,742C/G—uncertain significance
rs75177906413:52,951,761C/A—uncertain significance
rs75604522613:52,951,778G/A—uncertain significance
rs78015034113:52,951,782A/Gmissense variant—
rs953604113:52,951,802T/C—benign
rs74623325013:52,951,812G/T—uncertain significance
rs74983805513:52,951,824G/A—uncertain significance
rs20029322713:52,951,826C/A—uncertain significance
rs77727909013:52,951,868C/T—uncertain significance
rs254759618813:52,951,887G/A—uncertain significance
rs37572918913:52,951,895T/C—uncertain significance
rs254759625413:52,951,919T/C—uncertain significance
rs8014023913:52,951,969G/A—likely benign
rs14225803113:52,951,990A/G—likely benign
rs77795825913:52,952,049G/A—uncertain significance
rs75876255313:52,952,109G/A—uncertain significance
rs37171728313:52,952,147G/Amissense variant—
rs76605799013:52,952,161G/A—likely benign
rs14114018613:52,952,306C/Tmissense variantlikely benign
rs15075470513:52,952,314G/A—likely benign
rs7488810413:52,952,317C/T—likely benign
rs128743434713:52,952,321G/A—uncertain significance
rs195765475713:52,952,322G/A—uncertain significance
rs105290761413:52,952,333A/C—uncertain significance
rs118137517213:52,952,342T/C—uncertain significance
rs7503165613:52,952,391A/G—benign
rs75310070513:52,952,407C/T—likely benign
rs117151050013:52,952,473A/G—likely benign
rs254759695813:52,952,544G/A—likely pathogenic
rs953604213:52,952,575G/A—likely benign
rs148921469313:52,952,597G/A—uncertain significance
rs14686054113:52,952,656G/A—likely benign
rs953604313:52,952,680G/A—likely benign
rs20180508113:52,952,708T/Cmissense variant—
rs102586572813:52,952,716C/T—likely benign
rs77640038013:52,952,727G/Amissense variant—
rs13919707013:52,952,749G/A—benign
rs159409522313:52,952,757G/A—pathogenic
rs124992900313:52,952,791C/T—likely benign
rs75644200813:52,952,804G/A—uncertain significance
rs77233351113:52,952,855A/C—uncertain significance
rs140260485113:52,952,862C/T—uncertain significance
rs20087378913:52,952,933A/C—benign
rs149031351413:52,960,256G/A—uncertain significance
rs195772869013:52,960,276C/T—uncertain significance
rs20072244413:52,960,290C/T—benign
rs123816791613:52,960,292G/A—uncertain significance
rs159410311213:52,971,362C/T—uncertain significance
rs98754762013:52,971,369G/A—likely benign
rs129402060813:52,971,385G/C—uncertain significance
rs76340618113:52,971,420C/T—uncertain significance
rs254760448113:52,971,452C/T—likely benign
rs14126915313:52,971,458C/T—uncertain significance
rs254760451213:52,971,496C/A—pathogenic
rs131824134213:52,971,550T/C—uncertain significance
rs14374910913:52,971,572G/A—likely benign
rs20110945213:52,971,586C/T—uncertain significance
rs74844308713:52,971,686A/G—likely benign
rs14959073213:52,971,687A/G—likely benign
rs254760462313:52,971,691G/C—uncertain significance
rs74756732513:52,971,696G/A—uncertain significance
rs77672435913:52,971,707G/A—likely benign
rs953606213:52,971,718G/Cmissense variantbenign
rs78620566913:52,971,771C/Tmissense variantpathogenic
rs195782259213:52,971,864A/C—uncertain significance
rs120201329813:52,971,892C/T—uncertain significance
rs380326413:52,971,893A/G—benign
rs78166256413:52,971,917C/T—likely benign
rs20034019313:52,971,924A/G—likely benign
rs254760497413:52,972,145C/A—uncertain significance
rs254760498613:52,972,177T/A—uncertain significance
rs254760505113:52,972,297C/T—uncertain significance
rs75733632713:52,972,327G/A—uncertain significance
rs195787294813:52,976,705G/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.