HPD

4-hydroxyphenylpyruvate dioxygenase

Summary

The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Known Variants310 total

rsidPosition (GRCh37)AllelesClassClinVar
rs135212948512:122,277,432A/T—uncertain significance
rs88604903612:122,277,443G/A—uncertain significance
rs94232514812:122,277,444C/A—uncertain significance
rs87920577612:122,277,552A/G—uncertain significance
rs159291349212:122,277,565G/A—uncertain significance
rs93160076012:122,277,569T/C—uncertain significance
rs76542122712:122,277,640G/A—likely benign
rs20213996512:122,277,643G/C—likely benign
rs140480331312:122,277,651C/G—uncertain significance
rs78018391712:122,277,652C/T—likely benign
rs75498572812:122,277,657T/C—uncertain significance
rs250028006012:122,277,661C/T—likely benign
rs13902463212:122,277,682C/T—likely benign
rs56071520912:122,277,683C/G—uncertain significance
rs250028020212:122,277,694C/T—likely benign
rs187734443512:122,277,695T/A—uncertain significance
rs102009983112:122,277,696C/T—uncertain significance
rs213760558012:122,277,700C/T—likely benign
rs14232145112:122,277,708C/T—conflicting classifications of pathogenicity
rs77709460012:122,277,710T/C—uncertain significance
rs147218656612:122,277,712G/T—uncertain significance
rs187734588612:122,277,718T/C—likely benign
rs36903761712:122,277,719G/T—uncertain significance
rs250028039012:122,277,724G/T—uncertain significance
rs37267259412:122,277,730G/T—likely benign
rs127567898012:122,277,733G/C—likely benign
rs37693701412:122,277,739A/G—likely benign
rs187734705212:122,277,748T/C—likely benign
rs135436934012:122,277,751C/A—likely benign
rs129524340412:122,277,760G/C—likely benign
rs250028082912:122,277,823G/A—likely benign
rs250028084412:122,277,825G/A—likely benign
rs250028085312:122,277,826G/A—likely benign
rs19129326712:122,277,828C/T—likely benign
rs148261702412:122,277,842T/A—uncertain significance
rs187735132812:122,277,848T/C—uncertain significance
rs159291378912:122,277,860A/G—likely pathogenic
rs14594753012:122,277,871G/A—likely benign
rs127467811812:122,277,877G/T—likely benign
rs116407234912:122,277,880C/T—likely benign
rs250028105912:122,277,883G/A—likely benign
rs250028106512:122,277,886C/T—likely benign
rs3602338212:122,277,891C/A—benign
rs75026679512:122,277,892C/T—likely benign
rs187735294912:122,277,893G/C—uncertain significance
rs13785286812:122,277,904G/Tsynonymous variantlikely benign
rs250028124612:122,277,916G/A—likely benign
rs75857673012:122,277,922T/C—likely benign
rs78165919512:122,277,931G/C—uncertain significance
rs20024049012:122,277,937C/T—likely benign
rs90807518712:122,277,943G/T—likely benign
rs250028142412:122,277,952C/T—likely benign
rs74778930112:122,277,958G/A—likely benign
rs74861792012:122,277,960C/A—likely benign
rs55424527712:122,277,961G/C—likely benign
rs130520092712:122,277,965G/A—likely benign
rs76633411812:122,277,973G/T—likely benign
rs179596312:122,281,575A/G—benign
rs36764970812:122,281,596G/A—likely benign
rs77298647212:122,281,599T/A—likely benign
rs20086689812:122,281,602T/G—conflicting classifications of pathogenicity
rs125268030712:122,281,611C/T—uncertain significance
rs118740301412:122,281,621G/A—likely benign
rs146351782712:122,281,625A/G—likely benign
rs187748188712:122,281,628A/G—likely benign
rs37610003712:122,281,629A/G—uncertain significance
rs75175397512:122,281,655C/T—conflicting classifications of pathogenicity
rs20001080512:122,281,656G/A—uncertain significance
rs187748300812:122,281,664C/T—likely benign
rs147653414112:122,281,671C/T—uncertain significance
rs14928161212:122,281,672G/A—uncertain significance
rs14454490712:122,281,675G/A—conflicting classifications of pathogenicity
rs20003878312:122,281,688C/T—likely benign
rs77746541112:122,281,690T/C—uncertain significance
rs36840746312:122,281,703T/C—likely benign
rs250028993512:122,281,716C/T—uncertain significance
rs250028996512:122,281,718T/C—likely benign
rs250028998812:122,281,728A/T—likely pathogenic
rs14014459712:122,281,734C/T—conflicting classifications of pathogenicity
rs14844247712:122,281,735G/C—uncertain significance
rs187748760612:122,281,749G/A—likely benign
rs133184185212:122,281,750C/T—likely benign
rs141181607912:122,281,753A/G—likely benign
rs250029007912:122,281,754G/A—likely benign
rs224729112:122,284,715C/T—benign
rs76859715912:122,284,752G/T—likely benign
rs123801551512:122,284,756G/A—likely benign
rs77434965512:122,284,757G/C—likely benign
rs122859016012:122,284,759G/A—likely benign
rs250029781712:122,284,761T/A—likely benign
rs37205814612:122,284,768C/T—uncertain significance
rs37508314212:122,284,784T/C—uncertain significance
rs14441600212:122,284,786G/A—likely benign
rs18921027112:122,284,797C/T—uncertain significance
rs250029793312:122,284,801G/A—likely benign
rs137344255212:122,284,810C/A—likely benign
rs36915257712:122,284,816G/A—likely benign
rs137415572112:122,284,819C/T—likely benign
rs75581678812:122,284,821C/T—uncertain significance
rs20124972112:122,284,822G/A—likely benign

Showing 100 of 310 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.