COL17A1

collagen type XVII alpha 1 chain

Summary

This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]

Known Variants1,224 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88604667910:105,791,046T/C—uncertain significance
rs146669188710:105,791,170A/C—uncertain significance
rs88604668010:105,791,249C/A—uncertain significance
rs942510:105,791,355C/T—benign
rs57201986310:105,791,435C/G—uncertain significance
rs92234600310:105,791,566C/T—uncertain significance
rs90958410510:105,791,599G/T—uncertain significance
rs56033589110:105,791,616C/T—uncertain significance
rs53698201610:105,791,617G/A—uncertain significance
rs184468829910:105,791,632A/G—uncertain significance
rs102994982910:105,791,870A/G—uncertain significance
rs54367475010:105,791,878T/C—uncertain significance
rs1225362610:105,791,919C/A—benign
rs80568710:105,791,929C/G—benign
rs88604668110:105,791,936C/T—uncertain significance
rs14975469610:105,791,985T/C—likely benign
rs75242162710:105,791,988C/G—likely benign
rs77742720310:105,791,996C/T—likely benign
rs77033763510:105,792,002G/A—likely benign
rs78125999910:105,792,005A/G—likely benign
rs76316400210:105,792,014T/A—uncertain significance
rs14850961810:105,792,027C/T—uncertain significance
rs37338820710:105,792,029C/T—likely benign
rs130294881010:105,792,032A/G—likely benign
rs249326702710:105,792,044G/A—likely benign
rs146580940010:105,792,062G/A—likely benign
rs76688185410:105,792,064T/C—likely benign
rs37652514310:105,792,065C/G—likely benign
rs125197231410:105,792,067G/A—likely benign
rs249326710810:105,792,068T/C—likely benign
rs80568810:105,792,077A/G—benign
rs81394310:105,792,205C/A—benign
rs126780357810:105,792,412G/A—likely benign
rs249326804010:105,792,413T/C—likely benign
rs88604668210:105,792,419A/G—conflicting classifications of pathogenicity
rs249326805610:105,792,421T/G—likely benign
rs249326806210:105,792,424A/G—likely benign
rs76549072610:105,792,460T/G—likely benign
rs249326819210:105,792,472T/C—likely benign
rs14275563410:105,792,484A/G—likely benign
rs97957900710:105,792,490T/A—likely benign
rs249326829810:105,792,499A/C—likely benign
rs213455990910:105,792,504C/T—benign
rs249326837710:105,792,519G/A—likely benign
rs249326838410:105,792,520G/A—likely benign
rs74843576510:105,792,522A/G—likely benign
rs19994453810:105,792,528G/T—likely benign
rs1711633810:105,792,529G/A—benign
rs77113400110:105,792,531C/T—likely benign
rs36797777710:105,792,532G/A—likely benign
rs707081610:105,792,565G/A—benign
rs75379450510:105,792,645G/A—likely benign
rs20195019310:105,792,646C/T—likely benign
rs249326881510:105,792,650C/T—likely benign
rs75323470510:105,792,652G/A—likely benign
rs103673201810:105,792,653C/G—likely benign
rs75483293210:105,792,654C/T—likely benign
rs75820068010:105,792,677A/C—likely benign
rs77792721310:105,792,686C/T—likely benign
rs77118684610:105,792,692T/C—likely benign
rs14382623210:105,792,704G/C—likely benign
rs77013940810:105,792,706G/T—uncertain significance
rs135038406210:105,792,709C/T—uncertain significance
rs249326903910:105,792,716G/A—likely benign
rs14684133010:105,792,717G/A—likely benign
rs121066364510:105,792,719T/C—likely benign
rs57156675010:105,792,725A/G—likely benign
rs124886625810:105,792,735G/A—likely benign
rs76590338410:105,792,741A/G—likely benign
rs118987528210:105,792,743A/G—likely benign
rs145114216710:105,792,746C/A—likely benign
rs213456056410:105,792,755G/A—benign
rs74977932210:105,792,978G/A—likely benign
rs53716325810:105,792,980A/G—likely benign
rs249327009810:105,792,985G/C—likely benign
rs127619656210:105,792,986A/G—likely benign
rs77625335210:105,793,002A/T—uncertain significance
rs76290241410:105,793,018C/T—likely benign
rs75133831010:105,793,026C/T—uncertain significance
rs158955400110:105,793,036G/A—likely benign
rs249327032510:105,793,045G/T—likely benign
rs36881975410:105,793,048C/T—likely benign
rs14991041110:105,793,060G/A—likely benign
rs20190675110:105,793,089G/T—uncertain significance
rs75920782010:105,793,099G/A—likely benign
rs76280893010:105,793,104T/C—uncertain significance
rs76418073310:105,793,107A/G—uncertain significance
rs158955408110:105,793,114C/G—likely benign
rs249327069610:105,793,122G/A—likely benign
rs249327072010:105,793,126G/A—likely benign
rs184471683210:105,793,144C/G—likely benign
rs76637253410:105,793,147G/C—likely benign
rs174767510:105,793,173T/G—benign
rs5684489510:105,793,366T/C—benign
rs218183310:105,793,369G/A—benign
rs378133210:105,793,403C/T—benign
rs214726810:105,793,459C/T—benign
rs1159619210:105,793,587C/A—benign
rs76081979310:105,793,683G/C—likely benign
rs249327264710:105,793,685C/T—likely benign

Showing 100 of 1,224 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.