OAT

ornithine aminotransferase

Summary

This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]

Known Variants496 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37545490710:126,085,950C/T—uncertain significance
rs818210:126,085,976A/G—benign
rs137728382710:126,086,025T/C—uncertain significance
rs88604680710:126,086,133T/C—uncertain significance
rs75321693410:126,086,200A/G—uncertain significance
rs88604680810:126,086,236T/C—uncertain significance
rs88604680910:126,086,322T/C—uncertain significance
rs245921610:126,086,326A/G—benign
rs53050556010:126,086,450T/C—uncertain significance
rs75062834410:126,086,476G/A—uncertain significance
rs213443969310:126,086,511T/C—uncertain significance
rs130854524610:126,086,517A/G—likely benign
rs249442662510:126,086,519A/T—uncertain significance
rs180045610:126,086,520C/Gmissense variantbenign
rs249442669610:126,086,522A/G—likely benign
rs38683359810:126,086,524A/Tmissense variantpathogenic
rs52803924610:126,086,526G/A—likely benign
rs213443980110:126,086,530T/G—uncertain significance
rs20078509410:126,086,531T/C—uncertain significance
rs249442685710:126,086,532G/A—likely benign
rs249442691610:126,086,537T/A—uncertain significance
rs213443983010:126,086,538A/T—likely benign
rs13870914310:126,086,540T/C—uncertain significance
rs77483174910:126,086,545A/G—uncertain significance
rs147723058010:126,086,546T/C—uncertain significance
rs76229453210:126,086,547G/A—likely benign
rs158969209910:126,086,550C/T—likely benign
rs76795755110:126,086,554C/T—likely benign
rs12196505810:126,086,555G/Astop gainedpathogenic
rs117070212910:126,086,559C/A—uncertain significance
rs143441503710:126,086,570T/C—uncertain significance
rs76092269310:126,086,576C/G—uncertain significance
rs57140349510:126,086,577C/T—likely benign
rs249442745410:126,086,579G/A—likely benign
rs57031869010:126,086,580C/T—likely benign
rs12196504410:126,086,581G/Amissense variantpathogenic
rs76391520510:126,086,582G/A—conflicting classifications of pathogenicity
rs75144903410:126,086,586C/T—conflicting classifications of pathogenicity
rs128216950310:126,086,600T/C—uncertain significance
rs144282946710:126,086,601G/A—likely benign
rs74553000010:126,086,603C/T—uncertain significance
rs94155977810:126,086,604G/C—likely benign
rs20186414710:126,086,607A/G—conflicting classifications of pathogenicity
rs76816641310:126,086,609G/C—uncertain significance
rs249442789910:126,086,610G/C—likely benign
rs249442796210:126,086,616C/T—likely benign
rs213444035910:126,086,619G/C—likely benign
rs14173717010:126,086,623A/G—uncertain significance
rs12196504310:126,086,626A/Gmissense variantpathogenic
rs12196505510:126,086,630C/Astop gainedpathogenic
rs213444044110:126,086,633T/A—uncertain significance
rs20006876910:126,086,639G/A—pathogenic
rs213444049110:126,086,643T/C—likely benign
rs77681957010:126,086,644C/T—uncertain significance
rs12196503610:126,086,645G/Tsynonymous variantlikely benign
rs213444055210:126,086,647A/C—uncertain significance
rs38683359710:126,086,650C/Tmissense variantpathogenic
rs12196505410:126,086,651A/Gmissense variantpathogenic
rs195128711910:126,086,652C/T—likely benign
rs38683359610:126,086,659C/Tstop gainedpathogenic
rs141457308910:126,086,665T/C—uncertain significance
rs128198037410:126,086,666C/A—uncertain significance
rs249442859810:126,086,667C/T—pathogenic
rs213444065910:126,086,668C/T—pathogenic
rs75021114510:126,086,671T/C—uncertain significance
rs249442867110:126,086,672C/G—likely pathogenic
rs89249427610:126,086,683T/C—likely benign
rs37285008510:126,086,684A/T—conflicting classifications of pathogenicity
rs102221125410:126,086,686T/C—likely benign
rs213444075010:126,086,687A/T—likely benign
rs119197584210:126,086,691C/T—likely benign
rs245921710:126,086,730G/A—benign
rs5631145210:126,086,779C/T—benign
rs11207747810:126,089,151G/A—benign
rs13872133110:126,089,194T/C—benign
rs267433510:126,089,275C/T—benign
rs1224841810:126,089,294A/G—benign
rs249444352610:126,089,393T/G—likely benign
rs75345023710:126,089,394G/A—likely benign
rs158969716410:126,089,399A/C—likely benign
rs213445013610:126,089,408C/T—pathogenic
rs249444364810:126,089,409C/G—uncertain significance
rs213445015210:126,089,413G/T—likely benign
rs128531333310:126,089,418C/A—pathogenic
rs54571076310:126,089,430T/C—likely benign
rs139094024110:126,089,431A/C—likely benign
rs140898420610:126,089,433C/T—uncertain significance
rs1146110:126,089,434G/Asynonymous variantbenign
rs213445033810:126,089,442A/G—likely benign
rs158969730410:126,089,443T/C—likely benign
rs12196504510:126,089,444C/Gmissense variantpathogenic
rs38683359510:126,089,450C/Tmissense variantuncertain significance
rs37034904010:126,089,455T/C—likely benign
rs76306404810:126,089,457C/T—uncertain significance
rs14832583810:126,089,458G/A—likely benign
rs76999543810:126,089,464T/C—likely benign
rs119543897010:126,089,478G/A—uncertain significance
rs158969749010:126,089,479T/A—likely benign
rs213445058610:126,089,484T/C—uncertain significance
rs37545803010:126,089,488G/C—likely benign

Showing 100 of 496 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.