COL25A1

collagen type XXV alpha 1 chain

Summary

This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Known Variants88 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24763891364:109,738,567C/G—uncertain significance
rs15784418474:109,740,465C/T—likely benign
rs13214697384:109,745,356C/A—uncertain significance
rs7611319584:109,745,368G/A—uncertain significance
rs7660496444:109,745,378G/C—uncertain significance
rs7471745014:109,748,313G/A—uncertain significance
rs15539445724:109,753,537C/T—uncertain significance
rs3682844074:109,753,548G/T—likely benign
rs3724894194:109,753,584T/A—likely benign
rs2018824274:109,762,862G/A—uncertain significance
rs7741409564:109,765,688G/A—uncertain significance
rs24765796614:109,765,719C/T—uncertain significance
rs24765798854:109,765,724A/G—uncertain significance
rs7655790414:109,766,363C/T—likely benign
rs11576892434:109,766,399A/T—uncertain significance
rs14654905144:109,766,406C/G—uncertain significance
rs1999518354:109,767,296G/A—uncertain significance
rs8860377414:109,767,321C/Astop gainedpathogenic
rs13635200904:109,773,422A/T—likely benign
rs1147619644:109,773,446G/C—benign
rs24767234154:109,774,052A/C—likely benign
rs3759614254:109,780,818G/A—likely benign
rs3690250984:109,780,829G/T—uncertain significance
rs728970324:109,780,843T/C—benign
rs7697176054:109,780,852T/C—uncertain significance
rs24767842584:109,782,109C/G—uncertain significance
rs21257910684:109,782,110T/G—uncertain significance
rs7802093904:109,784,483C/Tmissense variantpathogenic
rs2018852984:109,784,488G/A—uncertain significance
rs9600164174:109,784,537G/A—uncertain significance
rs17412645034:109,810,864C/G—uncertain significance
rs24771326194:109,810,876G/C—pathogenic
rs7492618974:109,817,818T/A—likely benign
rs3750174664:109,817,862G/A—likely benign
rs7542360274:109,817,876G/A—likely benign
rs3725051114:109,822,322G/A—uncertain significance
rs15787073364:109,822,333A/G—likely benign
rs131441024:109,829,449A/Tintron variant—
rs131346634:109,840,559A/T——
rs5676534814:109,856,161T/C——
rs1836255834:109,858,976T/G—likely benign
rs7593163724:109,861,694C/T—likely pathogenic
rs3736106094:109,861,695G/A—benign
rs2018184304:109,861,714C/T—uncertain significance
rs7569286924:109,861,758T/C—likely benign
rs1409984594:109,861,764T/G—benign
rs12253907824:109,861,797G/T—uncertain significance
rs10240394884:109,862,529A/G—uncertain significance
rs3774888374:109,862,536G/A—uncertain significance
rs175314744:109,863,370T/C—benign
rs21948614:109,889,251A/C——
rs24781931094:109,895,530C/T—uncertain significance
rs7491951314:109,895,541T/G—uncertain significance
rs2016214374:109,895,713G/T—benign
rs3694152454:109,931,518G/A—uncertain significance
rs780741914:109,940,521C/T——
rs15791982334:109,969,330A/T—likely benign
rs2012789124:109,971,282G/A—benign
rs24763034184:109,971,299C/T—uncertain significance
rs2021211244:109,971,313C/T—likely benign
rs12743807664:109,971,321G/A—likely pathogenic
rs2011525534:110,029,924A/T——
rs27040994:110,097,555C/Gintron variant—
rs1171895324:110,146,332C/Tintron variant—
rs7619056764:110,221,735T/C—uncertain significance
rs1998268394:110,221,762G/A—uncertain significance
rs7668572304:110,221,776G/A—likely benign
rs14715637994:110,221,790C/T—uncertain significance
rs7601437284:110,221,798T/C—uncertain significance
rs14028308114:110,221,801T/C—uncertain significance
rs13538841284:110,222,888A/G—likely benign
rs3726082184:110,222,903C/A—uncertain significance
rs3764510654:110,222,947G/A—likely benign
rs2021763444:110,222,960G/C—likely benign
rs347273114:110,222,972G/A—benign
rs17255792394:110,222,987G/C—uncertain significance
rs7647030124:110,223,004C/T—likely benign
rs7575398954:110,223,036A/G—uncertain significance
rs2011628124:110,223,046C/T—uncertain significance
rs14173223104:110,223,059G/A—likely benign
rs7777709874:110,223,060G/A—uncertain significance
rs5657801014:110,223,078G/T—uncertain significance
rs5343888454:110,223,108G/T—uncertain significance
rs11746753664:110,223,117G/A—uncertain significance
rs7703840014:110,223,139G/A—uncertain significance
rs7737867864:110,223,140G/A—likely benign
rs7604909674:110,223,157C/A—uncertain significance
rs5775430454:110,223,169G/C—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.