ALDH1A3

aldehyde dehydrogenase 1 family member A3

Summary

This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Known Variants120 total

rsidPosition (GRCh37)AllelesClassClinVar
rs717926815:101,419,765T/A—benign
rs14345251815:101,419,787G/A—benign
rs18100159215:101,419,845G/A—benign
rs75944881915:101,420,131G/C—uncertain significance
rs94614196515:101,420,138A/T—uncertain significance
rs113073715:101,420,155A/G—likely benign
rs78034018115:101,420,218C/A—likely benign
rs74976450615:101,420,226C/T—likely benign
rs144904027715:101,420,340G/A—likely benign
rs89253150815:101,420,343C/G—likely benign
rs7404181615:101,425,343G/A—likely benign
rs142219352715:101,425,470A/G—pathogenic
rs222918215:101,425,495C/G—likely benign
rs14187659915:101,425,542G/A—uncertain significance
rs119145937215:101,425,556G/T—likely pathogenic
rs7438616715:101,425,581A/C—benign
rs464665515:101,425,619G/T—benign
rs464665615:101,425,703T/C—benign
rs11488912815:101,425,727G/A—likely benign
rs2867303415:101,427,585C/G—likely benign
rs2838549915:101,427,601G/C—likely benign
rs14633723315:101,427,720C/T—likely benign
rs53333319315:101,427,782C/T—likely benign
rs38683423015:101,427,783G/Amissense variantpathogenic
rs36891853615:101,427,830G/A—likely benign
rs39751465215:101,427,837C/Tmissense variantpathogenic
rs147019368415:101,427,859G/A—pathogenic
rs14616988815:101,427,899G/A—benign
rs56041856915:101,427,905C/T—likely benign
rs20077514615:101,427,932T/C—benign
rs464666015:101,427,998A/C—benign
rs464666115:101,428,153T/Gdownstream gene variant—
rs188615:101,432,404C/T—likely benign
rs380952115:101,432,681T/C—benign
rs159612438815:101,432,711G/A—likely benign
rs77587383015:101,432,730G/A—uncertain significance
rs159612441415:101,432,734C/G—uncertain significance
rs74946660515:101,432,735A/G—likely benign
rs119777700015:101,432,801T/C—likely benign
rs75461960715:101,432,803C/T—likely pathogenic
rs7893165815:101,432,845G/T—pathogenic
rs7821164715:101,432,913C/G—benign
rs15054284615:101,433,161G/A—uncertain significance
rs132092136115:101,433,176C/T—uncertain significance
rs20044053615:101,433,216G/A—pathogenic
rs36886726015:101,434,155G/A—likely benign
rs250554987915:101,434,187G/A—pathogenic
rs76440417315:101,434,233G/T—uncertain significance
rs214155640215:101,434,238C/T—uncertain significance
rs7764216915:101,435,893T/C—likely benign
rs7613633815:101,436,087G/A—likely benign
rs6175767915:101,436,161G/A—likely benign
rs250555340815:101,436,168G/A—uncertain significance
rs14180760715:101,436,179C/T—benign
rs116408184015:101,436,180G/A—pathogenic
rs76947056115:101,436,239C/T—likely benign
rs464666915:101,436,307T/C—benign
rs11255444515:101,436,333A/G—benign
rs7263324815:101,436,387T/A—benign
rs392268515:101,438,071T/C—benign
rs74916681015:101,438,282C/T—likely benign
rs14153647215:101,438,314G/A—likely benign
rs75100821115:101,438,341G/A—likely benign
rs14237755215:101,438,350G/T—likely benign
rs54791806415:101,438,352G/Tmissense variantpathogenic
rs74601625015:101,438,372G/A—uncertain significance
rs77034504915:101,438,379C/A—uncertain significance
rs14327855315:101,438,380G/A—likely benign
rs122687804115:101,438,381G/T—uncertain significance
rs14327708615:101,438,583A/C—likely benign
rs78060230815:101,440,770C/T—likely benign
rs222918315:101,440,841G/T—benign
rs129481483515:101,440,842G/A—uncertain significance
rs250556259915:101,440,849C/A—uncertain significance
rs159612959915:101,440,860G/A—uncertain significance
rs75926135115:101,440,862G/A—likely benign
rs14638136315:101,440,883G/A—likely benign
rs78044883115:101,440,917C/T—uncertain significance
rs13867589315:101,440,922C/T—likely benign
rs77933133415:101,440,923G/A—uncertain significance
rs11639698315:101,440,978T/C—benign
rs464667415:101,440,988A/C—benign
rs464667515:101,441,055C/T—benign
rs464667615:101,441,183C/T—benign
rs382592615:101,445,441T/C—likely benign
rs250557062015:101,445,764A/T—likely pathogenic
rs380343115:101,445,766C/A—benign
rs11258285715:101,445,793G/A—likely benign
rs11366115915:101,445,802C/T—likely benign
rs119986435415:101,445,803G/A—likely pathogenic
rs380343015:101,445,815A/G—benign
rs250557093215:101,445,894T/C—pathogenic
rs382592415:101,445,900G/A—benign
rs424632715:101,446,199A/C—benign
rs76744708315:101,447,385A/G—likely benign
rs37591821715:101,447,387C/T—uncertain significance
rs77540705315:101,447,397C/T—likely benign
rs14563072815:101,447,398G/A—conflicting classifications of pathogenicity
rs37727189015:101,447,477C/T—uncertain significance
rs14012838715:101,447,478G/A—likely benign

Showing 100 of 120 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.