COL18A1

collagen type XVIII alpha 1 chain

Summary

This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Known Variants2,281 total

rsidPosition (GRCh37)AllelesClassClinVar
rs96273999621:46,825,017G/C—benign
rs998183121:46,825,028G/C—benign
rs144976699721:46,825,108A/C—uncertain significance
rs122072456421:46,825,119C/G—uncertain significance
rs132167514821:46,825,144G/A—uncertain significance
rs132971669321:46,825,150C/T—uncertain significance
rs212348058421:46,825,154G/A—likely benign
rs115642175121:46,825,155A/G—uncertain significance
rs203303111521:46,825,156G/A—uncertain significance
rs179133758521:46,825,164C/T—likely benign
rs251737367321:46,825,165G/T—likely benign
rs95121479821:46,825,166G/C—likely benign
rs142525479121:46,825,170T/C—likely benign
rs11327229721:46,825,214G/C—benign
rs6049903421:46,825,223G/C—benign
rs87933579221:46,825,229C/G—benign
rs18535710321:46,825,235C/T—benign
rs18885268821:46,825,267G/T—benign
rs133392448621:46,825,275C/G—likely benign
rs212348339421:46,825,277G/C—likely benign
rs251737707421:46,825,279G/A—likely benign
rs251737709121:46,825,280C/T—likely benign
rs137443161521:46,825,287C/A—uncertain significance
rs141255823221:46,825,290G/T—likely benign
rs146797609721:46,825,292A/T—pathogenic
rs251737717621:46,825,293G/C—pathogenic
rs123824272021:46,825,296G/A—uncertain significance
rs127776639921:46,825,297C/T—likely benign
rs134705893321:46,825,298C/T—uncertain significance
rs75632949921:46,825,305C/T—uncertain significance
rs78031542821:46,825,308G/T—uncertain significance
rs203306290921:46,825,311C/T—uncertain significance
rs75407577821:46,825,313C/T—conflicting classifications of pathogenicity
rs212348359521:46,825,314G/T—uncertain significance
rs75500734221:46,825,316C/G—uncertain significance
rs212348362021:46,825,320G/C—uncertain significance
rs128680246821:46,825,322C/T—uncertain significance
rs212348363721:46,825,323G/C—uncertain significance
rs212348365021:46,825,326T/C—uncertain significance
rs212348367321:46,825,330G/A—likely benign
rs124889405121:46,825,334G/A—uncertain significance
rs54333523421:46,825,340G/A—uncertain significance
rs90473618021:46,825,342G/T—likely benign
rs212348375521:46,825,344C/G—uncertain significance
rs131043033721:46,825,348G/C—likely benign
rs143244206021:46,825,349G/A—uncertain significance
rs117016944321:46,825,358C/T—uncertain significance
rs251737777521:46,825,359T/C—uncertain significance
rs137062784421:46,825,361G/T—uncertain significance
rs87943410321:46,825,370G/T—uncertain significance
rs105579322321:46,825,377C/T—uncertain significance
rs77249297221:46,825,378C/T—conflicting classifications of pathogenicity
rs212348388421:46,825,380C/T—uncertain significance
rs203306594521:46,825,388G/C—uncertain significance
rs101433254721:46,825,396C/A—likely benign
rs56152806921:46,825,398G/T—likely benign
rs127554861821:46,825,401C/A—likely benign
rs127215069721:46,825,402G/A—likely benign
rs133898467321:46,825,406C/T—likely benign
rs3451396821:46,825,678G/A——
rs481910121:46,835,361A/Gdownstream gene variant—
rs283892321:46,846,944A/C——
rs11782869821:46,849,501C/Aupstream gene variant—
rs11638657121:46,853,876G/Tregulatory region variant—
rs18617077321:46,861,441C/Tintron variant—
rs6221632021:46,873,068T/C—benign
rs3433642121:46,875,194T/C—benign
rs57632720521:46,875,444G/A—uncertain significance
rs251751069721:46,875,451C/T—likely benign
rs147549059021:46,875,455A/G—uncertain significance
rs74977570921:46,875,456C/T—likely benign
rs136665669521:46,875,457C/G—uncertain significance
rs203476883021:46,875,458C/G—likely benign
rs139843733421:46,875,465C/G—likely benign
rs74839981621:46,875,468C/T—likely benign
rs251751089221:46,875,475C/T—likely benign
rs76940414021:46,875,489C/T—likely benign
rs120534986621:46,875,494G/A—uncertain significance
rs77517851721:46,875,496C/T—likely benign
rs727769321:46,875,500C/T—likely benign
rs103166183721:46,875,501G/A—likely benign
rs76399521021:46,875,508C/T—uncertain significance
rs75152914221:46,875,509G/A—uncertain significance
rs76733292121:46,875,516C/A—uncertain significance
rs37536328521:46,875,526C/A—uncertain significance
rs142762952121:46,875,530A/G—uncertain significance
rs203477265821:46,875,532T/C—uncertain significance
rs36938976821:46,875,535C/T—uncertain significance
rs77921782521:46,875,541T/C—likely benign
rs133441371421:46,875,545A/G—uncertain significance
rs251751143421:46,875,550G/A—uncertain significance
rs74871777721:46,875,555C/T—likely benign
rs75878407221:46,875,557C/G—uncertain significance
rs91423021:46,875,564T/C—benign
rs203477449121:46,875,571A/G—uncertain significance
rs19998402321:46,875,575C/T—uncertain significance
rs74868994021:46,875,576G/A—likely benign
rs36869610621:46,875,579C/T—likely benign
rs203477491921:46,875,581C/G—uncertain significance
rs119527185421:46,875,582T/C—likely benign

Showing 100 of 2,281 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.