COL10A1

collagen type X alpha 1 chain

Summary

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008]

Known Variants348 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17790238776:116,440,091T/C—uncertain significance
rs1417327196:116,440,130C/T—benign
rs11825592156:116,440,151C/T—uncertain significance
rs1505497376:116,440,194T/C—benign
rs10537418636:116,440,198G/A—uncertain significance
rs10592776:116,440,210C/T—benign
rs1395742366:116,440,211G/A—benign
rs10257902636:116,440,336C/T—uncertain significance
rs1869454606:116,440,403A/G—likely benign
rs1900881896:116,440,446A/C—benign
rs8860609886:116,440,562T/C—uncertain significance
rs1863163736:116,440,583A/G—benign
rs14286019516:116,440,664A/G—uncertain significance
rs8860609896:116,440,725A/G—uncertain significance
rs10243604056:116,440,781A/G—uncertain significance
rs9301785046:116,440,808C/T—uncertain significance
rs784002916:116,440,820C/T—benign
rs9225775056:116,440,912T/C—uncertain significance
rs5662353606:116,440,918T/A—uncertain significance
rs5532279896:116,440,919A/T—benign
rs5669372886:116,440,921T/A—benign
rs10161619696:116,440,944T/C—uncertain significance
rs5508874676:116,440,945G/A—likely benign
rs1497885536:116,440,990A/G—likely benign
rs1822098926:116,441,040A/G—benign
rs9868764346:116,441,051A/C—uncertain significance
rs1174243766:116,441,079T/C—benign
rs5341024106:116,441,085G/T—benign
rs7464783586:116,441,099G/A—uncertain significance
rs13269364486:116,441,184G/A—uncertain significance
rs2002354596:116,441,239C/G—likely benign
rs7513696496:116,441,240A/G—uncertain significance
rs1450039216:116,441,241T/C—conflicting classifications of pathogenicity
rs7575865776:116,441,247C/G—uncertain significance
rs25340831586:116,441,252A/G—uncertain significance
rs7790709166:116,441,253G/C—uncertain significance
rs17790632746:116,441,258C/T—uncertain significance
rs21142763086:116,441,262A/G—likely pathogenic
rs17790635566:116,441,265A/C—likely benign
rs1110335526:116,441,268A/Gmissense variantpathogenic
rs7473669456:116,441,272G/A—likely benign
rs1404865686:116,441,276A/G—uncertain significance
rs17790642526:116,441,282T/C—uncertain significance
rs21142764906:116,441,283C/A—likely pathogenic
rs21142765886:116,441,290G/C—pathogenic
rs1385657006:116,441,296G/C—likely benign
rs13409529616:116,441,303G/C—likely pathogenic
rs12577331876:116,441,305C/T—likely benign
rs7595426066:116,441,309G/T—uncertain significance
rs17790655996:116,441,311A/C—uncertain significance
rs21142768866:116,441,322G/A—pathogenic
rs21142769166:116,441,324A/C—likely pathogenic
rs25340836506:116,441,325G/A—uncertain significance
rs1110335476:116,441,326C/Tstop gainedpathogenic
rs17790664826:116,441,327C/T—conflicting classifications of pathogenicity
rs1110335496:116,441,328A/Gmissense variantpathogenic
rs25340837346:116,441,334G/A—pathogenic
rs17790673006:116,441,337C/G—likely pathogenic
rs12184410176:116,441,346T/G—uncertain significance
rs2011214046:116,441,352C/T—conflicting classifications of pathogenicity
rs14080504326:116,441,353G/A—likely benign
rs25340838426:116,441,354A/C—uncertain significance
rs17790692066:116,441,361C/G—uncertain significance
rs17790693456:116,441,363C/G—uncertain significance
rs1110335486:116,441,383G/Tstop gainedpathogenic
rs21142775566:116,441,392G/T—likely benign
rs1110335436:116,441,395G/Cstop gainedpathogenic
rs7694370626:116,441,403C/T—uncertain significance
rs7487775816:116,441,404A/T—likely pathogenic
rs14906399896:116,441,405T/C—uncertain significance
rs21142777766:116,441,410G/T—pathogenic
rs25340841606:116,441,412A/T—uncertain significance
rs25340841976:116,441,418C/T—uncertain significance
rs25340842036:116,441,420G/A—uncertain significance
rs7703820606:116,441,423G/T—uncertain significance
rs21142778976:116,441,426C/A—pathogenic
rs617451486:116,441,428A/G—likely benign
rs7606120486:116,441,435T/C—uncertain significance
rs17790727056:116,441,436A/C—likely pathogenic
rs1110335456:116,441,438A/Gmissense variantpathogenic
rs7655239086:116,441,440G/A—likely benign
rs25340843576:116,441,446C/T—pathogenic
rs1110335566:116,441,447C/Tstop gainedpathogenic
rs22285486:116,441,470C/G—benign
rs1437694516:116,441,472C/G—uncertain significance
rs7530339656:116,441,473G/A—likely benign
rs25340845186:116,441,478A/T—uncertain significance
rs1110335556:116,441,481A/Gmissense variantpathogenic
rs15541929236:116,441,483A/G—likely pathogenic
rs1110335446:116,441,487A/Cmissense variantpathogenic
rs1110335546:116,441,489T/Amissense variantuncertain significance
rs25340845546:116,441,490A/G—pathogenic
rs1110335536:116,441,495C/Tmissense variantpathogenic
rs21142785946:116,441,496C/T—likely pathogenic
rs12642548356:116,441,502T/C—uncertain significance
rs21142787416:116,441,507C/A—pathogenic
rs1110335466:116,441,508A/Cmissense variantpathogenic
rs7781356856:116,441,510G/A—uncertain significance
rs25340847076:116,441,513A/G—uncertain significance
rs7706241136:116,441,520C/T—likely benign

Showing 100 of 348 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.