Gene entry
PNP
purine nucleoside phosphorylase
- Chromosome
- 14
- Cytoband
- 14q11.2
- Variants (rsID)
- 13
PNP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q11.2). Its official name is “purine nucleoside phosphorylase”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs1049564Benignsingle nucleotide variantNUCLEOSIDE PHOSPHORYLASE POLYMORPHISM|Purine-nucleoside phosphorylase deficiency
- rs1079375Benignsingle nucleotide variantPurine-nucleoside phosphorylase deficiency
- rs1079376Benignsingle nucleotide variantPurine-nucleoside phosphorylase deficiency
- rs1713420Benignsingle nucleotide variantPurine-nucleoside phosphorylase deficiency
- rs17883795Benignsingle nucleotide variantPurine-nucleoside phosphorylase deficiency
- rs56141845Benignsingle nucleotide variantPurine-nucleoside phosphorylase deficiency
- rs104894451Pathogenicsingle nucleotide variantPurine-nucleoside phosphorylase deficiency
- rs104894453Uncertain significancesingle nucleotide variantPurine-nucleoside phosphorylase deficiency
- rs104894454Uncertain significancesingle nucleotide variantPurine-nucleoside phosphorylase deficiency
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.