COL13A1

collagen type XIII alpha 1 chain

Summary

This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]

Known Variants586 total

rsidPosition (GRCh37)AllelesClassClinVar
rs264260810:71,559,723C/Tregulatory region variant—
rs270450510:71,561,770A/G—benign
rs5682506110:71,562,094C/T—benign
rs99187444210:71,562,185A/G—likely benign
rs213197576310:71,562,186G/A—uncertain significance
rs141780306410:71,562,191G/A—likely benign
rs100905484510:71,562,192C/T—uncertain significance
rs156469662710:71,562,203A/G—likely benign
rs139669408010:71,562,206G/A—likely benign
rs37679184310:71,562,208C/T—uncertain significance
rs104257531710:71,562,214C/G—uncertain significance
rs77127887410:71,562,245G/T—likely benign
rs77466121910:71,562,246C/A—conflicting classifications of pathogenicity
rs142830007210:71,562,248C/G—likely benign
rs254087032710:71,562,263G/A—likely benign
rs75975189710:71,562,269G/T—likely benign
rs137375691110:71,562,272G/A—likely benign
rs130308576810:71,562,281G/T—uncertain significance
rs135531691610:71,562,288G/A—uncertain significance
rs76517531910:71,562,291C/T—uncertain significance
rs148580136710:71,562,292G/C—uncertain significance
rs254087295510:71,562,295T/G—uncertain significance
rs56102210410:71,562,297C/T—uncertain significance
rs77973868010:71,562,299G/A—likely benign
rs131910351710:71,562,305A/G—likely benign
rs115984939010:71,562,311G/C—likely benign
rs213198163310:71,562,312T/A—uncertain significance
rs52830710010:71,562,317G/T—likely benign
rs77141190810:71,562,341G/T—likely benign
rs254087567010:71,562,345G/A—uncertain significance
rs75980299610:71,562,359C/T—likely benign
rs119331963310:71,562,360G/T—uncertain significance
rs76076979410:71,562,366T/C—uncertain significance
rs37082131310:71,562,377C/T—likely benign
rs37516843710:71,562,400G/A—uncertain significance
rs137065525910:71,562,409C/T—uncertain significance
rs75215021310:71,562,410G/A—likely benign
rs20009841910:71,562,415G/T—conflicting classifications of pathogenicity
rs20203050910:71,562,416C/A—benign
rs55091574610:71,562,417G/C—uncertain significance
rs74707341310:71,562,431G/A—uncertain significance
rs77306284410:71,562,436C/G—uncertain significance
rs1099897310:71,562,437G/A—benign
rs213198624610:71,562,441A/G—uncertain significance
rs76942629810:71,562,450C/Tstop gainedpathogenic
rs20013848310:71,562,468G/T—conflicting classifications of pathogenicity
rs20111270310:71,562,471G/A—uncertain significance
rs75564967910:71,562,482T/C—likely benign
rs75786467110:71,562,488T/C—likely benign
rs184036606610:71,562,490G/T—likely benign
rs5617380410:71,562,737A/G—benign
rs1749752610:71,580,120T/Cintron variant—
rs37492603110:71,582,107G/C—likely benign
rs76360811910:71,582,115C/T—likely benign
rs75343089610:71,582,118T/C—likely benign
rs76134203510:71,582,120T/A—likely benign
rs76889639810:71,582,128T/A—uncertain significance
rs124018235510:71,582,133G/A—likely benign
rs20052870710:71,582,134C/T—benign
rs119394799010:71,582,135T/G—uncertain significance
rs75182234310:71,582,147G/A—uncertain significance
rs75525828310:71,582,150G/A—uncertain significance
rs100062059810:71,582,153G/A—uncertain significance
rs213262149610:71,582,158G/A—uncertain significance
rs74579058510:71,582,184C/T—likely benign
rs184633453010:71,582,187C/T—likely benign
rs7913540010:71,582,188C/T—benign
rs76035069910:71,582,192C/G—uncertain significance
rs254156917410:71,582,194G/C—uncertain significance
rs37559597110:71,582,204C/T—likely benign
rs818130210:71,582,371G/A—benign
rs276334110:71,582,455A/G—benign
rs707716410:71,583,198C/A——
rs1159868410:71,583,757C/T—benign
rs122775610:71,588,504G/C——
rs709631110:71,610,049C/Aintron variant—
rs7994900010:71,627,257T/C—benign
rs205866966710:71,627,534A/C—likely benign
rs90490018910:71,627,539C/T—likely benign
rs205867101310:71,627,547C/T—likely benign
rs130067400710:71,627,571C/G—likely benign
rs37048956810:71,627,576C/T—likely benign
rs76952048310:71,627,577G/A—likely benign
rs120715750610:71,627,581G/A—likely benign
rs37287078710:71,631,922C/T—likely benign
rs37452588110:71,631,923G/A—likely benign
rs36865138510:71,631,933A/G—likely benign
rs37190904910:71,631,948T/G—likely benign
rs254343614110:71,631,954A/C—uncertain significance
rs52997800910:71,631,957C/T—benign
rs37547124910:71,631,968T/C—likely pathogenic
rs76431496210:71,631,974A/G—likely benign
rs213408704410:71,631,975C/G—likely benign
rs205914333210:71,631,978T/C—likely benign
rs213408728710:71,631,983T/G—likely benign
rs4131499210:71,632,205A/G—benign
rs4130463910:71,632,218C/T—benign
rs276336010:71,634,639A/G—benign
rs127418140210:71,634,866T/C—likely benign
rs77695490510:71,634,867G/A—likely benign

Showing 100 of 586 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.