ACAN

aggrecan

Summary

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

Known Variants981 total

rsidPosition (GRCh37)AllelesClassClinVar
rs804186315:89,359,689T/G——
rs433272515:89,367,562C/A——
rs93861115:89,379,131A/G—benign
rs93861015:89,379,295G/A—benign
rs159612869915:89,379,429A/T—likely pathogenic
rs105752258215:89,379,440G/A—uncertain significance
rs77553902015:89,379,443C/T—likely benign
rs20216656115:89,379,448T/C—conflicting classifications of pathogenicity
rs37124923215:89,379,450C/T—uncertain significance
rs250520740915:89,379,452C/T—likely benign
rs144702222915:89,379,454G/A—pathogenic
rs77663125615:89,379,462G/A—uncertain significance
rs76171951715:89,379,487C/T—uncertain significance
rs18583662915:89,379,516A/T—likely benign
rs37101645615:89,379,517T/C—likely benign
rs77829202115:89,379,519C/A—likely benign
rs13884911315:89,379,520C/T—likely benign
rs1694231215:89,381,452T/Aintron variant—
rs11525213115:89,381,707G/A—benign
rs124193911415:89,381,884T/C—likely benign
rs57120690015:89,381,895C/A—conflicting classifications of pathogenicity
rs132929764715:89,381,902A/G—uncertain significance
rs75241927815:89,381,903A/G—uncertain significance
rs115638896415:89,381,904C/T—likely benign
rs37125980215:89,381,907G/A—likely benign
rs132464926615:89,381,912G/A—uncertain significance
rs104125400615:89,381,914G/T—uncertain significance
rs77017953815:89,381,929C/T—uncertain significance
rs56911925815:89,381,931G/A—benign
rs54853462715:89,381,936C/T—conflicting classifications of pathogenicity
rs36795665115:89,381,937G/A—benign
rs250522106915:89,381,946C/A—likely benign
rs189656925615:89,381,953G/A—uncertain significance
rs75935444215:89,381,957C/A—uncertain significance
rs37251744715:89,381,958C/T—likely benign
rs127901897815:89,381,966C/T—uncertain significance
rs124923006315:89,381,970C/G—uncertain significance
rs250522124715:89,381,971C/T—uncertain significance
rs37703709915:89,381,985C/T—likely benign
rs76386138115:89,381,986G/C—uncertain significance
rs37011089215:89,381,987A/G—uncertain significance
rs104311601015:89,381,988C/T—likely benign
rs53467889115:89,381,991C/T—benign
rs20023932615:89,382,008C/A—conflicting classifications of pathogenicity
rs19164864615:89,382,009C/T—likely benign
rs74972058415:89,382,010G/C—uncertain significance
rs124514788515:89,382,011C/A—uncertain significance
rs75514267815:89,382,017C/A—uncertain significance
rs18289428015:89,382,022G/A—conflicting classifications of pathogenicity
rs77347357215:89,382,026C/A—uncertain significance
rs37204188015:89,382,027A/C—benign
rs189657285415:89,382,028C/T—likely benign
rs77540972215:89,382,040A/G—uncertain significance
rs155545369515:89,382,046T/C—pathogenic
rs57546820915:89,382,052C/T—uncertain significance
rs19970132915:89,382,053G/A—conflicting classifications of pathogenicity
rs134427249815:89,382,061A/C—uncertain significance
rs97297958115:89,382,062A/G—uncertain significance
rs76699559515:89,382,073G/T—uncertain significance
rs189657468715:89,382,085G/A—uncertain significance
rs250522227015:89,382,097G/A—uncertain significance
rs56531874215:89,382,100C/T—conflicting classifications of pathogenicity
rs37620231315:89,382,101G/A—uncertain significance
rs75414505415:89,382,102C/T—likely benign
rs37062631515:89,382,103G/A—uncertain significance
rs76713181615:89,382,106C/T—uncertain significance
rs37454454915:89,382,123T/C—likely benign
rs214156384115:89,382,124C/T—pathogenic
rs1694231815:89,382,129C/A—benign
rs250522275215:89,382,141G/T—likely benign
rs77178038015:89,382,147C/G—uncertain significance
rs250522284615:89,382,148T/A—likely pathogenic
rs37045878615:89,382,152C/T—uncertain significance
rs37365430315:89,382,153G/A—likely benign
rs76680558015:89,382,156C/T—likely benign
rs76000935215:89,382,169G/C—uncertain significance
rs55072132515:89,382,181G/T—uncertain significance
rs250522319215:89,382,184C/T—pathogenic
rs20110525015:89,382,193C/T—uncertain significance
rs78009519915:89,382,199A/C—uncertain significance
rs147781155615:89,382,200A/G—uncertain significance
rs214156416215:89,382,205T/C—uncertain significance
rs250522341615:89,382,208G/C—uncertain significance
rs250522342015:89,382,209G/A—uncertain significance
rs250522345015:89,382,212T/A—uncertain significance
rs55051019615:89,382,217C/T—benign
rs76851868915:89,382,218G/T—uncertain significance
rs52987966115:89,382,222C/T—likely benign
rs37205479015:89,382,223G/A—uncertain significance
rs76013866615:89,382,236G/C—uncertain significance
rs37507349715:89,382,240C/T—likely benign
rs77604487715:89,382,241G/A—uncertain significance
rs96142610915:89,382,249C/T—likely benign
rs37228675615:89,382,250G/A—uncertain significance
rs37676299115:89,382,255C/A—benign
rs3560022315:89,382,261G/A—likely benign
rs37187579115:89,382,267C/T—likely benign
rs117797055815:89,382,268G/A—uncertain significance
rs138583035115:89,382,277G/A—uncertain significance
rs189658299115:89,382,288C/T—likely benign

Showing 100 of 981 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.