Gene entry
PHYH
phytanoyl-CoA 2-hydroxylase
- Chromosome
- 10
- Cytoband
- 10p13
- Variants (rsID)
- 16
PHYH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10p13). Its official name is “phytanoyl-CoA 2-hydroxylase”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs28938169Benignsingle nucleotide variantPhytanic acid storage disease
- rs104894174Likely pathogenicsingle nucleotide variantRefsum disease, adult, 1
- rs104894173Pathogenicsingle nucleotide variantRefsum disease, adult, 1
- rs104894178Pathogenicsingle nucleotide variantRefsum disease, adult, 1|Retinitis pigmentosa|Phytanic acid storage disease
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.