CTC1

CST telomere replication complex component 1

Summary

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

Known Variants1,229 total

rsidPosition (GRCh37)AllelesClassClinVar
rs807266317:8,128,243C/G—likely benign
rs13984597217:8,128,267T/C—benign
rs56887710817:8,128,300C/A—uncertain significance
rs807282617:8,128,312C/T—uncertain significance
rs89066497817:8,128,419G/A—uncertain significance
rs93431284017:8,128,572C/G—uncertain significance
rs7397581317:8,128,650T/G—benign
rs103512759317:8,128,656C/T—uncertain significance
rs88605358717:8,128,714C/T—uncertain significance
rs198655554017:8,128,773A/T—uncertain significance
rs88605358817:8,128,813G/A—uncertain significance
rs165630667317:8,128,962G/A—uncertain significance
rs78056061817:8,128,968C/T—uncertain significance
rs95273476617:8,129,000C/T—uncertain significance
rs198657968517:8,129,073A/G—uncertain significance
rs55915265717:8,129,145T/C—uncertain significance
rs807833817:8,129,160A/G—benign
rs131139699517:8,129,161C/T—uncertain significance
rs77704290417:8,129,202A/T—uncertain significance
rs86883335717:8,129,256C/T—uncertain significance
rs77326953817:8,129,352C/T—uncertain significance
rs18734416817:8,129,383G/C—likely benign
rs19293464017:8,129,392C/A—likely benign
rs103322698917:8,129,408C/T—uncertain significance
rs7550357717:8,129,411C/T—benign
rs77215657417:8,129,428C/T—uncertain significance
rs88605359017:8,129,485C/T—uncertain significance
rs88605359117:8,129,491T/C—uncertain significance
rs5727081817:8,129,492A/G—benign
rs89703437517:8,129,504T/C—uncertain significance
rs116769091917:8,129,534C/T—uncertain significance
rs1165030917:8,129,538G/C—benign
rs88605359317:8,129,559C/T—uncertain significance
rs76747636917:8,129,562T/C—uncertain significance
rs75251239417:8,129,565G/A—uncertain significance
rs78099257117:8,129,568T/C—uncertain significance
rs104504973817:8,129,585T/C—uncertain significance
rs156759099817:8,129,598G/T—uncertain significance
rs53598110917:8,129,630G/T—uncertain significance
rs96179308917:8,129,631C/T—uncertain significance
rs86866341617:8,129,637T/C—uncertain significance
rs88605359417:8,129,641G/A—uncertain significance
rs14584533817:8,129,642G/A—uncertain significance
rs54086640717:8,129,645C/T—uncertain significance
rs55954102717:8,129,646C/T—uncertain significance
rs302725217:8,129,654C/G—uncertain significance
rs302725117:8,129,691C/G—uncertain significance
rs88605359517:8,129,706C/T—uncertain significance
rs56382204117:8,129,787T/C—uncertain significance
rs11419838917:8,129,830C/T—benign
rs55263562217:8,129,835C/T—likely benign
rs7720297817:8,129,868C/T—uncertain significance
rs76367182217:8,129,895A/T—uncertain significance
rs75115079417:8,129,898A/T—uncertain significance
rs53537305817:8,129,920A/T—uncertain significance
rs54686757817:8,129,925T/C—uncertain significance
rs13840597517:8,129,929G/A—uncertain significance
rs88605359817:8,129,933T/C—uncertain significance
rs98637564417:8,129,945G/A—uncertain significance
rs88605359917:8,129,956G/C—uncertain significance
rs75541865517:8,129,958G/A—uncertain significance
rs56138528217:8,129,964C/T—uncertain significance
rs55857125517:8,129,967A/G—uncertain significance
rs99818844917:8,129,981C/T—uncertain significance
rs88605360017:8,130,003C/T—uncertain significance
rs57470624717:8,130,012G/A—likely benign
rs79665128217:8,130,019G/A—uncertain significance
rs14642736717:8,130,020G/T—uncertain significance
rs11233626817:8,130,021C/A—likely benign
rs74597386217:8,130,023T/C—uncertain significance
rs7851766617:8,130,024T/C—likely benign
rs37708692817:8,130,025G/C—uncertain significance
rs302725017:8,130,048T/C—benign
rs14138385817:8,130,060G/C—uncertain significance
rs53367436217:8,130,078T/A—uncertain significance
rs57042956317:8,130,088T/C—uncertain significance
rs15079840317:8,130,129T/C—likely benign
rs57482008517:8,130,190A/T—uncertain significance
rs88605360117:8,130,212T/C—uncertain significance
rs18372540117:8,130,293A/C—likely benign
rs88605360217:8,130,294A/G—uncertain significance
rs88605360317:8,130,297A/G—uncertain significance
rs8009701017:8,130,298A/G—benign
rs54030490117:8,130,307A/T—uncertain significance
rs56202508617:8,130,310G/A—uncertain significance
rs88605360417:8,130,321G/A—uncertain significance
rs14951361317:8,130,322G/A—uncertain significance
rs75330967317:8,130,332G/A—uncertain significance
rs53880752217:8,130,342C/T—uncertain significance
rs88605360517:8,130,343G/A—uncertain significance
rs53459496717:8,130,350G/T—uncertain significance
rs75422208717:8,130,364C/T—uncertain significance
rs37596282317:8,130,368C/G—uncertain significance
rs37057149717:8,130,369T/C—likely benign
rs77929823017:8,130,373C/G—uncertain significance
rs57328649717:8,130,391T/C—uncertain significance
rs14163236417:8,130,393C/T—likely benign
rs7527221917:8,130,395G/T—likely benign
rs302724917:8,130,396G/A—uncertain significance
rs124002521017:8,130,437G/A—uncertain significance

Showing 100 of 1,229 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.