Gene entry
HPD
4-hydroxyphenylpyruvate dioxygenase
- Chromosome
- 12
- Cytoband
- 12q24.31
- Variants (rsID)
- 9
HPD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.31). Its official name is “4-hydroxyphenylpyruvate dioxygenase”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1154510Benignsingle nucleotide variantHawkinsinuria|Tyrosinemia type III|Hawkinsinuria
- rs36023382Benignsingle nucleotide variantHawkinsinuria|Tyrosinemia type III|Hawkinsinuria|Tyrosinemia type III
- rs137852868Conflicting interpretationssingle nucleotide variantTyrosinemia type III|Hawkinsinuria|Tyrosinemia type III|Hawkinsinuria
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.