COL1A1

collagen type I alpha 1 chain

Summary

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Known Variants1,994 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18361706417:48,261,140T/A—benign
rs88605314017:48,261,539T/C—uncertain significance
rs96756761017:48,261,547G/C—uncertain significance
rs56724912017:48,261,598G/A—likely benign
rs7398744217:48,261,630C/T—likely benign
rs55153638617:48,261,658G/C—uncertain significance
rs7571385117:48,261,688A/C—benign
rs14941971817:48,261,698G/C—conflicting classifications of pathogenicity
rs53619663117:48,261,712G/A—uncertain significance
rs19132645917:48,261,775C/T—likely benign
rs55784336017:48,261,776G/A—uncertain significance
rs20088228717:48,261,836C/A—conflicting classifications of pathogenicity
rs106197017:48,261,852A/Gregulatory region variantuncertain significance
rs57416762117:48,261,882C/G—conflicting classifications of pathogenicity
rs56497785817:48,262,026C/T—uncertain significance
rs52735832017:48,262,027G/A—conflicting classifications of pathogenicity
rs88605314617:48,262,048T/C—uncertain significance
rs88605314717:48,262,068G/A—uncertain significance
rs106194717:48,262,119G/A—benign
rs88605314817:48,262,130C/T—uncertain significance
rs56739298117:48,262,149G/A—uncertain significance
rs7772068317:48,262,181G/A—uncertain significance
rs56957794217:48,262,232C/T—uncertain significance
rs88605314917:48,262,240C/T—uncertain significance
rs55768196017:48,262,315G/T—conflicting classifications of pathogenicity
rs100435608417:48,262,361G/A—uncertain significance
rs7516810317:48,262,384G/A—likely benign
rs88605315017:48,262,426T/G—uncertain significance
rs14813147317:48,262,485G/C—conflicting classifications of pathogenicity
rs190636502917:48,262,507A/T—uncertain significance
rs125326838517:48,262,521G/T—uncertain significance
rs99002076617:48,262,578G/T—uncertain significance
rs56491750517:48,262,661T/C—conflicting classifications of pathogenicity
rs88605315817:48,262,669C/T—uncertain significance
rs77301474917:48,262,743A/G—uncertain significance
rs36797169517:48,262,770T/C—conflicting classifications of pathogenicity
rs106123717:48,262,775A/Gupstream gene variantbenign
rs190640289917:48,262,790G/T—uncertain significance
rs20108530917:48,262,842C/G—conflicting classifications of pathogenicity
rs19980690917:48,262,843C/G—uncertain significance
rs20217063117:48,262,847T/C—uncertain significance
rs77041487417:48,262,859G/A—likely benign
rs190641491617:48,262,866C/T—likely benign
rs7265635317:48,262,867A/Gmissense variantpathogenic
rs57762610717:48,262,871A/G—benign
rs75908098917:48,262,875G/T—conflicting classifications of pathogenicity
rs76725034317:48,262,882C/G—uncertain significance
rs77502637717:48,262,885A/G—uncertain significance
rs13855759417:48,262,886C/T—conflicting classifications of pathogenicity
rs11287372317:48,262,887G/A—likely benign
rs76189591817:48,262,889C/T—conflicting classifications of pathogenicity
rs76522405317:48,262,890G/C—uncertain significance
rs250915256717:48,262,891A/C—uncertain significance
rs96110506517:48,262,895C/T—uncertain significance
rs7265635217:48,262,896——pathogenic
rs75852400717:48,262,896G/A—likely benign
rs214452953417:48,262,897A/G—uncertain significance
rs78028612717:48,262,902C/T—likely benign
rs133951164717:48,262,907C/A—uncertain significance
rs89138030917:48,262,911G/A—benign
rs214452962317:48,262,915C/T—pathogenic
rs250915284217:48,262,916C/G—likely pathogenic
rs97289114317:48,262,918A/C—uncertain significance
rs36795213317:48,262,919C/T—conflicting classifications of pathogenicity
rs76024604717:48,262,920G/C—uncertain significance
rs250915296617:48,262,924A/G—uncertain significance
rs138830180517:48,262,929G/A—likely benign
rs113169232617:48,262,930G/A—pathogenic
rs132176663017:48,262,933A/G—likely benign
rs74865067217:48,262,935A/T—uncertain significance
rs7265635117:48,262,937C/G—pathogenic
rs77032688117:48,262,938G/C—uncertain significance
rs75791121417:48,262,939A/G—uncertain significance
rs77826665417:48,262,941G/C—uncertain significance
rs155557153617:48,262,942A/G—likely pathogenic
rs77151275417:48,262,944G/A—likely benign
rs14929567117:48,262,951C/T—uncertain significance
rs146777631817:48,262,956G/A—likely benign
rs105947517:48,262,962G/A—likely benign
rs250915345617:48,262,965G/A—likely benign
rs111416740317:48,262,966G/A—pathogenic
rs190643166017:48,262,973A/G—uncertain significance
rs4131672517:48,262,977A/G—benign
rs76302540517:48,262,982C/T—conflicting classifications of pathogenicity
rs214453025217:48,262,984G/A—uncertain significance
rs76638648517:48,262,996G/A—uncertain significance
rs190643480617:48,262,998T/A—likely benign
rs13938833417:48,263,000C/T—uncertain significance
rs14413499017:48,263,001G/A—likely benign
rs250915378417:48,263,005T/C—uncertain significance
rs190643707017:48,263,015G/A—likely benign
rs20145019417:48,263,016T/G—likely benign
rs224949217:48,263,021C/Tupstream gene variantbenign
rs104635991217:48,263,022G/A—likely benign
rs75645976817:48,263,023G/A—likely benign
rs250915483017:48,263,122G/A—likely benign
rs100809020617:48,263,133A/G—uncertain significance
rs250915490017:48,263,134C/G—uncertain significance
rs250915492317:48,263,136C/T—uncertain significance
rs11227418517:48,263,137A/G—pathogenic

Showing 100 of 1,994 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.