CHSY1

chondroitin sulfate synthase 1

Summary

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]

Known Variants225 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14976346815:101,717,599T/C—likely benign
rs14572208115:101,717,607C/A—uncertain significance
rs96088760015:101,717,625T/C—uncertain significance
rs20161230515:101,717,650T/C—likely benign
rs37026459015:101,717,667C/T—uncertain significance
rs802437015:101,717,680T/G—benign
rs55606511515:101,717,682T/C—uncertain significance
rs53251166815:101,717,695C/T—likely benign
rs37502410115:101,717,708C/G—uncertain significance
rs131544898615:101,717,709C/T—uncertain significance
rs203820853515:101,717,729T/C—uncertain significance
rs76839336215:101,717,760G/A—uncertain significance
rs54781989415:101,717,770G/A—benign
rs75090005315:101,717,783A/G—uncertain significance
rs14570493415:101,717,800C/T—benign
rs203821021415:101,717,843T/A—uncertain significance
rs250566983715:101,717,882C/A—uncertain significance
rs77303000015:101,717,883C/T—uncertain significance
rs6262139915:101,717,888C/T—benign
rs15024574515:101,717,914C/T—likely benign
rs14583777015:101,717,962G/C—likely benign
rs74771564715:101,717,973T/C—uncertain significance
rs74777078115:101,717,980G/T—likely benign
rs77757748915:101,717,988T/C—uncertain significance
rs57022270715:101,718,030T/C—uncertain significance
rs15007511015:101,718,045G/C—likely benign
rs203821382115:101,718,076C/T—likely benign
rs2836483915:101,718,097C/G—benign
rs380342315:101,718,106G/A—benign
rs37138615215:101,718,108C/T—uncertain significance
rs36827664715:101,718,109G/A—likely benign
rs75724282215:101,718,111C/T—uncertain significance
rs14071077915:101,718,112G/A—likely benign
rs132848492815:101,718,137T/C—uncertain significance
rs380342215:101,718,190C/T—benign
rs14730393515:101,718,209T/C—uncertain significance
rs14879046815:101,718,230C/T—uncertain significance
rs6262140015:101,718,239C/G—benign
rs250567116615:101,718,266T/C—uncertain significance
rs15123797515:101,718,277G/A—benign
rs37241453615:101,718,284T/C—uncertain significance
rs86647673815:101,718,300C/T—uncertain significance
rs19267762115:101,718,301G/A—likely benign
rs78166133415:101,718,309C/T—uncertain significance
rs76140134515:101,718,313C/G—uncertain significance
rs75858568915:101,718,327G/C—uncertain significance
rs37486976115:101,718,332G/A—uncertain significance
rs250567147415:101,718,344T/C—uncertain significance
rs38790698515:101,718,386G/Cmissense variantpathogenic
rs214123547215:101,718,390T/A—uncertain significance
rs14658693915:101,718,400T/A—conflicting classifications of pathogenicity
rs14130521415:101,718,402T/A—uncertain significance
rs76605322615:101,718,409A/C—likely benign
rs7478445415:101,718,436C/T—likely benign
rs75494773615:101,718,447G/T—likely benign
rs127457418215:101,718,450G/C—uncertain significance
rs75653294015:101,718,454G/C—likely benign
rs14500245115:101,718,484A/G—likely benign
rs56799424615:101,718,508A/G—likely benign
rs127140013815:101,718,510T/A—uncertain significance
rs76525391515:101,718,518T/C—uncertain significance
rs7645723015:101,718,529C/T—benign
rs76745501515:101,718,530T/C—uncertain significance
rs75626376715:101,718,534C/A—uncertain significance
rs20094206615:101,718,566T/G—uncertain significance
rs155549249215:101,718,579G/A—pathogenic
rs76275110515:101,718,590G/A—uncertain significance
rs37378254215:101,718,591C/T—uncertain significance
rs75043521515:101,718,592G/A—likely benign
rs250567246015:101,718,616T/G—uncertain significance
rs203822749315:101,718,632T/C—uncertain significance
rs250567268715:101,718,663A/G—uncertain significance
rs7503408615:101,718,674T/C—conflicting classifications of pathogenicity
rs14819308715:101,718,677A/G—likely benign
rs77339683515:101,718,690G/A—uncertain significance
rs76563486115:101,718,695T/C—uncertain significance
rs130812430815:101,718,699C/T—uncertain significance
rs200518015:101,718,700A/G—benign
rs37324409715:101,718,706G/C—uncertain significance
rs37080647415:101,718,735T/C—uncertain significance
rs14695324715:101,718,773A/G—uncertain significance
rs146310153615:101,718,778A/G—likely benign
rs11321989515:101,718,784G/A—likely benign
rs214123611715:101,718,789A/G—likely benign
rs57368138215:101,718,804C/T—uncertain significance
rs120152540615:101,718,819T/C—uncertain significance
rs14728747415:101,718,826G/A—likely benign
rs94425864815:101,718,834C/T—uncertain significance
rs13989401715:101,718,835G/A—likely benign
rs159641943315:101,718,891C/T—uncertain significance
rs76980155915:101,718,893C/T—uncertain significance
rs77560776815:101,718,899C/T—uncertain significance
rs76894768815:101,718,917A/G—uncertain significance
rs374319315:101,718,927A/G—benign
rs75090047515:101,718,943G/C—uncertain significance
rs7475243515:101,718,950T/C—benign
rs250567390515:101,718,962G/A—uncertain significance
rs77769512315:101,718,994G/A—likely benign
rs132028075515:101,718,996G/A—uncertain significance
rs14005139315:101,719,000C/A—likely benign

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.