ALDH3A2

aldehyde dehydrogenase 3 family member A2

Summary

Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants480 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57122564517:19,551,912G/C—likely benign
rs11489715317:19,552,052T/C—likely benign
rs99683592317:19,552,070C/T—uncertain significance
rs56239910317:19,552,131G/A—benign
rs55706899817:19,552,136C/G—likely benign
rs88605268617:19,552,188G/A—uncertain significance
rs77900681317:19,552,218C/T—uncertain significance
rs55410050917:19,552,274A/G—uncertain significance
rs56232192817:19,552,282G/A—uncertain significance
rs254434856117:19,552,285A/G—likely pathogenic
rs6173799117:19,552,286T/A—pathogenic
rs208477415617:19,552,287G/C—pathogenic
rs77042744217:19,552,294G/T—likely pathogenic
rs208477447117:19,552,299C/G—likely benign
rs146841782717:19,552,300C/T—uncertain significance
rs159754603017:19,552,311A/T—likely benign
rs7254755417:19,552,312C/Gmissense variantuncertain significance
rs142997286217:19,552,313A/T—uncertain significance
rs116250256617:19,552,320C/T—likely benign
rs76294459917:19,552,321C/T—likely benign
rs76414994017:19,552,326C/T—likely benign
rs147461712017:19,552,329C/A—likely benign
rs144702344917:19,552,334C/A—pathogenic
rs129181757617:19,552,346G/A—uncertain significance
rs215232556917:19,552,347G/T—likely benign
rs75163116517:19,552,349T/C—uncertain significance
rs126687973717:19,552,353G/A—likely benign
rs215232557517:19,552,357C/T—pathogenic
rs76762691017:19,552,359G/A—likely benign
rs75640892317:19,552,362G/T—uncertain significance
rs123726654117:19,552,365G/A—likely benign
rs78043374017:19,552,370C/T—uncertain significance
rs74967969317:19,552,371C/G—conflicting classifications of pathogenicity
rs130078334817:19,552,372C/T—likely benign
rs254434917917:19,552,374G/A—likely benign
rs254434920517:19,552,377G/A—likely benign
rs77940123717:19,552,378A/C—likely benign
rs137083682117:19,552,380G/A—likely benign
rs254434928017:19,552,387C/T—pathogenic
rs74557600917:19,552,393C/A—uncertain significance
rs91983695017:19,552,398G/A—likely benign
rs14719080717:19,552,403A/G—conflicting classifications of pathogenicity
rs215232561017:19,552,407C/T—likely benign
rs98258004617:19,552,408C/G—uncertain significance
rs208477803617:19,552,409T/C—uncertain significance
rs208477808917:19,552,410G/T—likely benign
rs11297107217:19,552,412C/T—uncertain significance
rs76285493717:19,552,413G/A—likely benign
rs128434683517:19,552,417A/T—uncertain significance
rs131813360717:19,552,419C/T—likely benign
rs120812142817:19,552,422C/T—likely benign
rs120269949017:19,552,425C/T—likely benign
rs254434968917:19,552,429C/T—likely benign
rs208477872717:19,552,431G/A—likely benign
rs105751740317:19,552,435——pathogenic
rs94475100017:19,552,436A/G—uncertain significance
rs105751686317:19,552,439T/G—pathogenic
rs118976900417:19,552,440A/G—uncertain significance
rs141008536917:19,552,445C/A—likely benign
rs254434982117:19,552,447C/T—likely benign
rs142153734817:19,552,448G/A—likely benign
rs117188553317:19,552,449T/C—likely benign
rs208477930517:19,552,452G/A—likely benign
rs137504293017:19,552,453G/A—likely benign
rs76405583617:19,552,454C/T—likely benign
rs77449564417:19,552,457G/A—likely benign
rs464679317:19,552,476C/T—benign
rs180087017:19,552,477C/T——
rs11755381717:19,552,660C/G—likely benign
rs1120440717:19,552,719G/A—benign
rs78071543817:19,554,846T/C—likely benign
rs74539401417:19,554,853A/G—likely benign
rs126799337017:19,554,854T/A—likely benign
rs18762944917:19,554,855A/T—likely benign
rs215232639817:19,554,865A/G—likely benign
rs215232640117:19,554,871T/C—likely benign
rs215232640317:19,554,874G/A—likely benign
rs208481474817:19,554,877C/G—pathogenic
rs215232641217:19,554,895T/A—likely benign
rs7254755617:19,554,897T/Amissense variantpathogenic
rs37168462917:19,554,901T/C—likely benign
rs215232641817:19,554,904G/A—likely benign
rs76075201317:19,554,908A/G—uncertain significance
rs254435695317:19,554,923G/C—uncertain significance
rs208481565117:19,554,930T/G—uncertain significance
rs75987479317:19,554,940G/Astop gainedpathogenic
rs254435711217:19,554,955A/G—likely benign
rs75889104217:19,554,967C/T—likely benign
rs254435720117:19,554,970G/C—likely benign
rs37591079117:19,554,977A/G—uncertain significance
rs215232646217:19,554,981T/A—uncertain significance
rs77983726917:19,554,982G/T—likely benign
rs20139415017:19,554,991C/A—likely benign
rs74791317417:19,554,993A/G—uncertain significance
rs254435738517:19,554,998C/T—pathogenic
rs7754296617:19,555,000G/A—likely benign
rs77198368917:19,555,007C/A—uncertain significance
rs77309355617:19,555,009T/C—conflicting classifications of pathogenicity
rs208481767717:19,555,010C/T—likely benign
rs56980791517:19,555,013G/C—uncertain significance

Showing 100 of 480 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.