CHST3

carbohydrate sulfotransferase 3

Summary

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]

Known Variants422 total

rsidPosition (GRCh37)AllelesClassClinVar
rs146904187810:73,724,260C/G—uncertain significance
rs414890710:73,724,266G/C—benign
rs14630582510:73,724,286G/T—likely benign
rs37190336510:73,724,295C/G—uncertain significance
rs133574756010:73,724,396C/T—uncertain significance
rs88604715810:73,724,429G/A—uncertain significance
rs88604715910:73,724,458T/G—uncertain significance
rs221983710:73,762,673T/Cintron variant—
rs474723510:73,765,213T/C—benign
rs53995831010:73,765,503G/A—uncertain significance
rs20205041810:73,765,550G/A—uncertain significance
rs123825357410:73,765,602T/C—uncertain significance
rs19951517310:73,765,607A/G—uncertain significance
rs184003331910:73,765,611G/A—uncertain significance
rs213177250310:73,765,619T/A—uncertain significance
rs37029572010:73,765,622C/T—uncertain significance
rs14037756310:73,765,634C/T—uncertain significance
rs249476373110:73,765,636G/A—likely benign
rs37689930010:73,765,637G/A—uncertain significance
rs57478463510:73,765,648C/T—likely benign
rs76209904910:73,765,654G/T—likely benign
rs54204006110:73,765,672C/T—likely benign
rs249476394910:73,765,683T/A—pathogenic
rs75106707410:73,765,685G/T—uncertain significance
rs75224810110:73,765,700G/A—uncertain significance
rs7712458410:73,765,708C/G—likely benign
rs37142822810:73,765,711C/T—likely benign
rs37459018510:73,765,714C/T—likely benign
rs75682105210:73,765,733A/T—uncertain significance
rs1100012910:73,765,773T/G—benign
rs414894010:73,765,995G/A—benign
rs249476676210:73,766,913C/T—likely benign
rs184004645310:73,766,916C/T—likely benign
rs213177393310:73,766,929G/C—pathogenic
rs128442470210:73,766,951G/C—uncertain significance
rs74951365910:73,766,956C/A—uncertain significance
rs184004715910:73,766,957C/G—likely benign
rs14036260410:73,766,964C/T—likely benign
rs136235024810:73,766,971A/G—uncertain significance
rs75993561810:73,766,984C/T—conflicting classifications of pathogenicity
rs96473814610:73,766,985G/A—uncertain significance
rs132152402110:73,766,990A/T—likely benign
rs14255685310:73,766,991G/A—uncertain significance
rs184004819110:73,767,012G/T—uncertain significance
rs136624308110:73,767,032C/T—likely benign
rs36846846810:73,767,033G/A—uncertain significance
rs76640830710:73,767,044A/T—likely benign
rs14634417710:73,767,057C/T—uncertain significance
rs13820394610:73,767,058T/C—uncertain significance
rs75613326810:73,767,060C/T—pathogenic
rs77785842810:73,767,065C/A—uncertain significance
rs14956961610:73,767,068T/C—likely benign
rs144695523510:73,767,084T/A—uncertain significance
rs14421829810:73,767,085T/C—uncertain significance
rs77600749610:73,767,095C/T—conflicting classifications of pathogenicity
rs20121104610:73,767,096G/A—uncertain significance
rs14880131610:73,767,100A/G—uncertain significance
rs74722683210:73,767,102C/G—uncertain significance
rs37765591510:73,767,105G/A—uncertain significance
rs76502488710:73,767,109T/A—uncertain significance
rs77288128410:73,767,111G/A—uncertain significance
rs249476791310:73,767,116C/T—likely benign
rs116302222810:73,767,117G/A—uncertain significance
rs75147004910:73,767,123G/T—pathogenic
rs75939339010:73,767,129G/C—uncertain significance
rs213177443910:73,767,136A/G—uncertain significance
rs14488581310:73,767,137G/T—conflicting classifications of pathogenicity
rs249476812410:73,767,149G/A—likely benign
rs75395649510:73,767,157C/T—uncertain significance
rs37109109810:73,767,166C/A—uncertain significance
rs74750164510:73,767,167G/T—likely benign
rs76933850410:73,767,170C/T—likely benign
rs56376169210:73,767,171G/C—likely benign
rs75274959510:73,767,173G/A—likely benign
rs14753555910:73,767,175C/T—uncertain significance
rs76614579710:73,767,183C/G—uncertain significance
rs133973714710:73,767,184G/A—uncertain significance
rs76750866910:73,767,187G/A—uncertain significance
rs14428788910:73,767,206C/T—conflicting classifications of pathogenicity
rs26760673510:73,767,211C/Tmissense variantuncertain significance
rs37610724510:73,767,212G/A—conflicting classifications of pathogenicity
rs137881538110:73,767,213C/T—likely pathogenic
rs136095088910:73,767,219G/A—conflicting classifications of pathogenicity
rs86593104210:73,767,220G/A—likely pathogenic
rs78044586310:73,767,223C/T—uncertain significance
rs138725354710:73,767,231G/T—uncertain significance
rs93028905210:73,767,234G/A—uncertain significance
rs99581223810:73,767,236C/T—likely benign
rs184005307810:73,767,238A/C—uncertain significance
rs20054716410:73,767,254G/C—benign
rs20210791210:73,767,255G/A—uncertain significance
rs37702568910:73,767,256G/A—uncertain significance
rs128711551410:73,767,258A/G—uncertain significance
rs74868249310:73,767,259A/C—uncertain significance
rs14553872310:73,767,264T/Amissense variantpathogenic
rs184005372410:73,767,269C/T—likely benign
rs26760673310:73,767,270C/Tmissense variantpathogenic
rs77418899710:73,767,275C/T—likely benign
rs77186601210:73,767,280C/T—pathogenic
rs77533897310:73,767,281G/A—likely benign

Showing 100 of 422 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.