THBD

thrombomodulin

Summary

The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]

Known Variants410 total

rsidPosition (GRCh37)AllelesClassClinVar
rs317612620:23,026,271G/A3 prime UTR variantbenign
rs37281683520:23,026,285G/T—benign
rs317613620:23,026,421G/A—benign
rs196220:23,026,496C/T3 prime UTR variantbenign
rs88605653920:23,026,545C/T—uncertain significance
rs86794021320:23,026,569C/A—uncertain significance
rs11325282220:23,026,644A/G—benign
rs88605654020:23,026,725G/A—uncertain significance
rs18364751520:23,026,852A/C—benign
rs198456764020:23,026,895C/G—uncertain significance
rs143918532020:23,026,909G/C—uncertain significance
rs317612420:23,026,945G/Aregulatory region variantuncertain significance
rs88605654120:23,027,099G/A—uncertain significance
rs56343910920:23,027,143C/A—benign
rs54957497920:23,027,175C/T—benign
rs14345032720:23,027,243G/C—benign
rs88605654220:23,027,261T/C—uncertain significance
rs92628817420:23,027,310T/G—uncertain significance
rs53476219620:23,027,403G/T—uncertain significance
rs317612320:23,027,413T/Gregulatory region variantbenign
rs104258020:23,027,621T/C3 prime UTR variantbenign
rs53978541320:23,027,639C/G—uncertain significance
rs7361175020:23,027,655T/A—benign
rs88605654320:23,027,751G/A—uncertain significance
rs88605654420:23,027,852C/G—uncertain significance
rs4128227620:23,027,894G/C—benign
rs18259276220:23,027,903A/C—benign
rs118908315820:23,027,905G/A—uncertain significance
rs317612220:23,027,917C/T—benign
rs1169691920:23,028,063C/T—benign
rs53663771520:23,028,076G/A—uncertain significance
rs18666952020:23,028,089A/G—likely benign
rs5635470720:23,028,093C/A—benign
rs317613420:23,028,137C/T3 prime UTR variantbenign
rs98568949920:23,028,184A/C—uncertain significance
rs54331700220:23,028,245C/T—uncertain significance
rs317612120:23,028,256C/T—likely benign
rs317613320:23,028,327A/C—benign
rs55102849820:23,028,367G/A—benign
rs37731161420:23,028,373A/G—benign
rs53008767420:23,028,387G/A—uncertain significance
rs1330685220:23,028,388G/A—benign
rs198461033420:23,028,413C/A—uncertain significance
rs116673286720:23,028,430G/A—uncertain significance
rs139486102820:23,028,432C/T—likely benign
rs86594883720:23,028,437C/G—uncertain significance
rs75131702720:23,028,438G/A—benign
rs36877406820:23,028,442C/T—uncertain significance
rs75559308020:23,028,445A/C—uncertain significance
rs91280927920:23,028,446C/A—uncertain significance
rs251520217520:23,028,448T/C—uncertain significance
rs20148751420:23,028,464C/G—uncertain significance
rs198461325720:23,028,468G/C—uncertain significance
rs14362591620:23,028,473G/A—uncertain significance
rs142058482220:23,028,477C/T—likely benign
rs77725894820:23,028,483C/T—likely benign
rs76018472020:23,028,487T/C—uncertain significance
rs251520231720:23,028,499G/T—uncertain significance
rs77572247020:23,028,505G/A—uncertain significance
rs148531066420:23,028,509C/T—uncertain significance
rs76425321720:23,028,522G/C—likely benign
rs37604999420:23,028,525C/G—likely benign
rs143654057920:23,028,528G/T—uncertain significance
rs160040914320:23,028,531G/T—likely pathogenic
rs156866564820:23,028,536G/A—uncertain significance
rs251520241520:23,028,537G/A—uncertain significance
rs54072085520:23,028,541G/T—uncertain significance
rs37546083920:23,028,548G/A—uncertain significance
rs75610272020:23,028,550G/A—uncertain significance
rs251520245420:23,028,554C/T—uncertain significance
rs212266872320:23,028,555C/G—likely benign
rs251520246320:23,028,558C/T—likely benign
rs251520247020:23,028,560G/A—likely benign
rs198461731620:23,028,565A/G—uncertain significance
rs53722894920:23,028,585T/C—uncertain significance
rs160040921820:23,028,586A/G—uncertain significance
rs75335538720:23,028,594G/A—likely benign
rs13886138520:23,028,596C/G—uncertain significance
rs138971061020:23,028,597C/A—likely benign
rs137366056720:23,028,605C/G—uncertain significance
rs55553777920:23,028,614C/T—uncertain significance
rs36935717820:23,028,615G/T—likely benign
rs20193642720:23,028,619G/T—uncertain significance
rs77567145320:23,028,623G/A—uncertain significance
rs57262385020:23,028,625G/A—uncertain significance
rs14805698520:23,028,631G/T—uncertain significance
rs198462032920:23,028,632T/A—uncertain significance
rs117898089620:23,028,634G/A—uncertain significance
rs7613567820:23,028,638C/G—conflicting classifications of pathogenicity
rs37340291220:23,028,639G/A—likely benign
rs180057920:23,028,640G/A—likely benign
rs92167116620:23,028,642C/A—uncertain significance
rs75334424320:23,028,643G/A—uncertain significance
rs75442626520:23,028,646G/C—uncertain significance
rs198462155520:23,028,652G/C—uncertain significance
rs180057820:23,028,659G/Amissense variantpathogenic
rs75808037120:23,028,663G/A—likely benign
rs78163187820:23,028,670C/A—uncertain significance
rs125254080120:23,028,672G/A—likely benign
rs88816121020:23,028,677C/A—uncertain significance

Showing 100 of 410 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.