COL4A1

collagen type IV alpha 1 chain

Summary

This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Known Variants1,869 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11161989313:110,797,558C/T—likely benign
rs5640663313:110,801,306A/G—likely benign
rs19306562813:110,801,611C/T—conflicting classifications of pathogenicity
rs77601633413:110,801,671T/C—uncertain significance
rs13991647913:110,801,696G/A—benign
rs76950257513:110,801,715G/A—uncertain significance
rs2836251513:110,801,735T/G—likely benign
rs187640031313:110,801,758T/C—uncertain significance
rs14348602913:110,801,872A/G—benign
rs37113002713:110,801,944C/T—likely benign
rs18996614313:110,802,101A/G—benign
rs1326013:110,802,123G/T—benign
rs88604995313:110,802,179A/T—uncertain significance
rs96774973713:110,802,180T/C—uncertain significance
rs88604995413:110,802,200T/C—uncertain significance
rs88604995513:110,802,233C/A—uncertain significance
rs105174824313:110,802,277A/C—uncertain significance
rs55515753913:110,802,445T/C—conflicting classifications of pathogenicity
rs1154587713:110,802,534T/C—likely benign
rs88604995613:110,802,573C/T—uncertain significance
rs213841533713:110,802,674A/T—uncertain significance
rs187643893613:110,802,675G/T—pathogenic
rs187643905213:110,802,678C/A—pathogenic
rs213841534213:110,802,679C/A—pathogenic
rs76251205313:110,802,704G/C—uncertain significance
rs187644080013:110,802,713T/C—likely benign
rs75118046613:110,802,717C/T—uncertain significance
rs75087320913:110,802,722C/T—uncertain significance
rs130114245413:110,802,724T/C—uncertain significance
rs79472775113:110,802,726C/T—uncertain significance
rs213841539413:110,802,736A/G—uncertain significance
rs75053867713:110,802,738C/T—uncertain significance
rs155530008613:110,802,739G/A—conflicting classifications of pathogenicity
rs75257560413:110,802,745C/T—uncertain significance
rs77791506113:110,802,746G/A—likely benign
rs75894477013:110,802,748G/A—uncertain significance
rs13991716313:110,802,749C/T—likely benign
rs77913911313:110,802,750G/A—uncertain significance
rs159452555613:110,802,752G/A—likely benign
rs75640385613:110,802,753C/T—uncertain significance
rs37735088613:110,802,754G/A—uncertain significance
rs187644434713:110,802,759T/A—uncertain significance
rs250171210413:110,802,763C/G—uncertain significance
rs213841546613:110,802,771A/G—uncertain significance
rs77087181813:110,802,774G/C—uncertain significance
rs11583424213:110,802,779C/T—likely benign
rs20176753213:110,802,780G/A—uncertain significance
rs75117988513:110,802,782C/T—likely benign
rs78006766313:110,802,783G/A—uncertain significance
rs75241979113:110,802,791C/T—uncertain significance
rs250171225013:110,802,795A/G—likely benign
rs140414616613:110,802,798C/T—likely benign
rs75603884213:110,802,800C/T—likely benign
rs36953424513:110,802,801G/A—likely benign
rs250171229413:110,802,807G/A—likely benign
rs250171230613:110,802,811C/A—likely benign
rs7676203313:110,803,091A/G—likely benign
rs229823713:110,804,455A/G—benign
rs180899613:110,804,476T/C—likely benign
rs7527318513:110,804,527C/T—likely benign
rs800079513:110,804,613C/T—benign
rs53419126413:110,804,668T/C—likely benign
rs250171610113:110,804,676C/T—uncertain significance
rs213841744313:110,804,679A/G—uncertain significance
rs187653816613:110,804,681T/C—uncertain significance
rs75914164213:110,804,682T/C—uncertain significance
rs127138979113:110,804,684A/T—uncertain significance
rs250171613113:110,804,686C/T—uncertain significance
rs97302777013:110,804,689C/T—likely benign
rs250171613513:110,804,690T/G—uncertain significance
rs75336025913:110,804,691C/T—uncertain significance
rs135558758613:110,804,692G/T—uncertain significance
rs159452734713:110,804,697T/G—likely benign
rs20101250913:110,804,702A/G—uncertain significance
rs145000723913:110,804,703T/C—uncertain significance
rs187654028713:110,804,706T/C—uncertain significance
rs14949599613:110,804,709C/T—uncertain significance
rs76048735513:110,804,710G/A—likely benign
rs118530752813:110,804,721T/A—uncertain significance
rs54280399113:110,804,722G/C—pathogenic
rs14420184813:110,804,727C/T—uncertain significance
rs67260134813:110,804,728G/Asynonymous variantlikely benign
rs138270533913:110,804,732G/C—uncertain significance
rs14875008013:110,804,734G/A—likely benign
rs250171635713:110,804,739A/G—uncertain significance
rs250171639313:110,804,747G/T—uncertain significance
rs74725011713:110,804,753C/T—conflicting classifications of pathogenicity
rs75529140213:110,804,754G/A—uncertain significance
rs78150239613:110,804,757C/T—uncertain significance
rs74855867013:110,804,758G/A—likely benign
rs14232655013:110,804,764C/T—likely benign
rs187654357613:110,804,766C/T—pathogenic
rs14685537313:110,804,767G/A—likely benign
rs98714977113:110,804,770G/A—conflicting classifications of pathogenicity
rs77162401413:110,804,776C/T—likely benign
rs77523374113:110,804,777G/A—uncertain significance
rs14066122213:110,804,785A/G—likely benign
rs134913019313:110,804,788C/T—likely benign
rs187654582213:110,804,794C/G—likely benign
rs19009790013:110,804,806G/A—likely benign

Showing 100 of 1,869 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.