rs1354369340
This variant is located in the HPD gene.
▶ClinVar annotation
About HPD
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]
View all HPD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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