TH

tyrosine hydroxylase

Summary

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

Known Variants859 total

rsidPosition (GRCh37)AllelesClassClinVar
rs384272711:2,184,848G/C——
rs384272611:2,185,127C/G—benign
rs134714387011:2,185,328G/T—uncertain significance
rs88604811311:2,185,354C/T—uncertain significance
rs184601136911:2,185,361G/T—uncertain significance
rs100833307211:2,185,409G/A—uncertain significance
rs57098929111:2,185,411G/A—uncertain significance
rs76209146111:2,185,454G/A—uncertain significance
rs76191066211:2,185,455C/G—likely benign
rs75363277711:2,185,467C/T—uncertain significance
rs204965063211:2,185,470A/G—uncertain significance
rs249578144611:2,185,478C/T—likely benign
rs14694595011:2,185,481C/T—likely benign
rs20121994411:2,185,482G/A—uncertain significance
rs213368647111:2,185,484A/G—likely benign
rs77747766111:2,185,487G/C—conflicting classifications of pathogenicity
rs124534647811:2,185,493G/T—likely benign
rs249578169711:2,185,495T/C—uncertain significance
rs213368651211:2,185,496G/A—likely benign
rs77365811211:2,185,497T/C—uncertain significance
rs213368652411:2,185,498C/G—uncertain significance
rs77027442911:2,185,499C/T—likely benign
rs144809996611:2,185,504C/T—uncertain significance
rs159016398611:2,185,507C/G—uncertain significance
rs184601871511:2,185,508C/T—likely benign
rs184601888811:2,185,512A/G—uncertain significance
rs56494988511:2,185,515C/T—conflicting classifications of pathogenicity
rs140570546411:2,185,517C/A—uncertain significance
rs249578209911:2,185,520C/T—likely benign
rs213368661311:2,185,522G/A—likely benign
rs7842605211:2,185,527C/T—uncertain significance
rs7877968311:2,185,528G/A—uncertain significance
rs213368664411:2,185,529C/T—likely benign
rs77457577211:2,185,530C/T—uncertain significance
rs20161674611:2,185,531G/A—uncertain significance
rs14758577411:2,185,534C/T—uncertain significance
rs37573548211:2,185,535G/A—conflicting classifications of pathogenicity
rs184602044111:2,185,541G/A—likely benign
rs184602076911:2,185,547G/A—likely benign
rs76064788811:2,185,550C/T—likely benign
rs213368674411:2,185,553C/G—likely benign
rs180003311:2,185,555C/T—conflicting classifications of pathogenicity
rs384272411:2,185,556G/T—uncertain significance
rs77135174711:2,185,557T/Cmissense variantpathogenic
rs20075197711:2,185,558C/A—likely pathogenic
rs11817554611:2,185,559G/A—conflicting classifications of pathogenicity
rs184602185911:2,185,563G/A—uncertain significance
rs184602195811:2,185,564C/T—uncertain significance
rs77742131311:2,185,567G/A—conflicting classifications of pathogenicity
rs37002942411:2,185,568C/T—likely benign
rs4547129911:2,185,569G/Amissense variantpathogenic
rs55280821211:2,185,574C/T—conflicting classifications of pathogenicity
rs76763505211:2,185,575G/A—pathogenic
rs74836442611:2,185,577G/T—uncertain significance
rs37462994811:2,185,579C/T—uncertain significance
rs57530578611:2,185,580G/A—likely benign
rs76067583911:2,185,588C/T—uncertain significance
rs4553853611:2,185,589G/A—conflicting classifications of pathogenicity
rs184602360711:2,185,590G/C—uncertain significance
rs77645724511:2,185,596G/T—uncertain significance
rs213368692211:2,185,598G/A—likely benign
rs75959932111:2,185,599C/T—conflicting classifications of pathogenicity
rs75592203211:2,185,600G/A—likely pathogenic
rs213368693611:2,185,603G/A—pathogenic
rs249578315111:2,185,604G/A—likely benign
rs159016418811:2,185,607G/T—likely benign
rs13829101311:2,185,608C/T—uncertain significance
rs37508470011:2,185,609G/A—uncertain significance
rs213368696911:2,185,610T/G—likely benign
rs249578322611:2,185,613G/A—likely benign
rs144286081311:2,185,616A/T—pathogenic
rs155492220011:2,185,623C/T—likely pathogenic
rs184602519911:2,185,628G/A—likely benign
rs91027771311:2,185,631G/C—likely benign
rs75673735111:2,185,633G/T—likely benign
rs184602572511:2,185,635G/A—likely benign
rs75431060311:2,185,636C/T—likely benign
rs249578345311:2,185,637G/A—likely benign
rs77762270611:2,185,640A/T—likely benign
rs249578350911:2,185,641G/C—likely benign
rs384272311:2,185,717A/G—likely benign
rs384272211:2,186,159G/A—likely benign
rs207076211:2,186,335A/Gupstream gene variantbenign
rs11493612011:2,186,424G/A—likely benign
rs249578851411:2,186,442G/T—likely benign
rs249578856411:2,186,446T/G—likely benign
rs249578859611:2,186,451G/T—likely benign
rs213368875311:2,186,452C/T—likely benign
rs75871326511:2,186,453C/T—likely benign
rs249578864911:2,186,455A/G—likely benign
rs37156692811:2,186,459C/G—uncertain significance
rs78141163811:2,186,461C/T—likely pathogenic
rs184605420411:2,186,463T/C—uncertain significance
rs53457218211:2,186,464G/A—likely benign
rs20178146711:2,186,466G/A—uncertain significance
rs126222089611:2,186,470G/A—likely benign
rs77558760911:2,186,472C/G—uncertain significance
rs130146448011:2,186,476G/A—likely benign
rs37446591711:2,186,478C/A—uncertain significance
rs37544022111:2,186,479G/A—likely benign

Showing 100 of 859 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.