ALDH5A1

aldehyde dehydrogenase 5 family member A1

Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants665 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77726306:24,494,852T/C—likely benign
rs46468286:24,494,924C/T—benign
rs27445756:24,494,975C/G—benign
rs46468296:24,495,004C/T—benign
rs46468306:24,495,050C/G—benign
rs5446261756:24,495,116C/T—likely benign
rs25328105436:24,495,216G/A—likely benign
rs12483733296:24,495,226T/C—uncertain significance
rs7807516416:24,495,229C/T—uncertain significance
rs2007937966:24,495,234T/G—likely benign
rs7641835076:24,495,236C/T—likely benign
rs2003980006:24,495,237A/G—conflicting classifications of pathogenicity
rs5694562416:24,495,242G/T—likely benign
rs7743793066:24,495,244T/G—uncertain significance
rs7620142346:24,495,245G/A—likely benign
rs7676018696:24,495,246C/T—conflicting classifications of pathogenicity
rs14278882096:24,495,248G/T—likely benign
rs9687073576:24,495,251C/G—uncertain significance
rs10116657666:24,495,252T/A—uncertain significance
rs3733159166:24,495,256G/A—conflicting classifications of pathogenicity
rs7664439386:24,495,261C/T—uncertain significance
rs21273787956:24,495,266C/T—likely benign
rs5352859686:24,495,268T/G—uncertain significance
rs12247973696:24,495,270G/A—uncertain significance
rs7531689766:24,495,274C/T—uncertain significance
rs7567637286:24,495,275G/A—likely benign
rs12547305796:24,495,278G/T—likely benign
rs25328110246:24,495,280T/C—uncertain significance
rs15618655586:24,495,282C/G—uncertain significance
rs3719232956:24,495,286G/A—likely benign
rs25328110836:24,495,287C/G—likely benign
rs12049273176:24,495,297C/G—uncertain significance
rs7557999996:24,495,299C/A—likely benign
rs25328111856:24,495,301C/A—uncertain significance
rs7797983096:24,495,303C/G—conflicting classifications of pathogenicity
rs7491207716:24,495,304G/A—uncertain significance
rs12275401316:24,495,306G/A—uncertain significance
rs9404503886:24,495,309G/A—uncertain significance
rs7685333386:24,495,310G/A—uncertain significance
rs15818005006:24,495,311C/T—likely benign
rs11719265926:24,495,312G/A—uncertain significance
rs9202579546:24,495,317G/T—likely benign
rs14038968386:24,495,321C/T—uncertain significance
rs14635468796:24,495,322C/T—uncertain significance
rs21273788736:24,495,325C/T—uncertain significance
rs7790346096:24,495,326C/G—conflicting classifications of pathogenicity
rs17646628606:24,495,328C/G—uncertain significance
rs25328114136:24,495,329C/T—likely benign
rs46468326:24,495,330G/C—benign
rs17646633486:24,495,333C/T—uncertain significance
rs17646634286:24,495,334C/T—uncertain significance
rs3680686266:24,495,336G/A—uncertain significance
rs7721017166:24,495,337C/T—uncertain significance
rs12939119416:24,495,339C/G—uncertain significance
rs12515403476:24,495,340C/G—uncertain significance
rs12618009976:24,495,341C/G—likely benign
rs13262023016:24,495,342G/C—uncertain significance
rs17646645996:24,495,344C/A—likely benign
rs17646646716:24,495,346C/T—uncertain significance
rs8860429316:24,495,347G/A—conflicting classifications of pathogenicity
rs9445893156:24,495,350C/T—likely benign
rs21273789186:24,495,352A/C—uncertain significance
rs1850427666:24,495,354C/G—likely benign
rs10454459506:24,495,357C/A—uncertain significance
rs21273789316:24,495,360T/C—uncertain significance
rs13973777306:24,495,361G/A—uncertain significance
rs12489181606:24,495,362C/T—likely benign
rs11821479906:24,495,365C/T—likely benign
rs11884746906:24,495,366G/T—uncertain significance
rs12627778666:24,495,371G/T—likely benign
rs11646400126:24,495,377G/C—likely benign
rs8860439446:24,495,378G/A—uncertain significance
rs14708942116:24,495,379C/A—uncertain significance
rs13790099896:24,495,380G/T—likely benign
rs7606124676:24,495,386C/T—likely benign
rs14720362706:24,495,388C/T—uncertain significance
rs21273789736:24,495,390G/C—uncertain significance
rs3715488626:24,495,392G/C—likely benign
rs25328120766:24,495,396C/T—likely benign
rs9071126056:24,495,399C/T—likely benign
rs10014930716:24,495,400T/C—uncertain significance
rs13062649986:24,495,404C/T—likely benign
rs7767917106:24,495,407C/G—conflicting classifications of pathogenicity
rs13468795246:24,495,410C/T—likely benign
rs3749083676:24,495,412G/T—conflicting classifications of pathogenicity
rs12883155896:24,495,413C/G—uncertain significance
rs9045962986:24,495,423G/A—uncertain significance
rs13362495656:24,495,426C/T—uncertain significance
rs13338162636:24,495,429T/C—uncertain significance
rs8860612686:24,495,432C/A—uncertain significance
rs17646690816:24,495,433T/C—uncertain significance
rs10120471516:24,495,434C/T—likely benign
rs12205812776:24,495,437G/A—likely benign
rs12710759146:24,495,440C/T—likely benign
rs12000168856:24,495,443C/A—likely benign
rs13388954176:24,495,447A/C—uncertain significance
rs15818008056:24,495,449C/T—likely benign
rs14170673646:24,495,454C/T—uncertain significance
rs11609482226:24,495,455C/G—likely benign
rs10015297596:24,495,456G/A—uncertain significance

Showing 100 of 665 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.