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Gene entry

PNPO

pyridoxamine 5'-phosphate oxidase

Chromosome
17
Cytoband
17q21.32
Variants (rsID)
6

PNPO is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.32). Its official name is “pyridoxamine 5'-phosphate oxidase”. The reference table lists 6 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs11079804Benignsingle nucleotide variantPyridoxal phosphate-responsive seizures|Seizure
  • rs17679445Benignsingle nucleotide variantPyridoxal phosphate-responsive seizures|Seizure
  • rs144362146Conflicting interpretationssingle nucleotide variantPyridoxal phosphate-responsive seizures
  • rs146027425Pathogenicsingle nucleotide variantPyridoxal phosphate-responsive seizures
  • rs370243877Pathogenicsingle nucleotide variantPyridoxal phosphate-responsive seizures
  • rs377328326Uncertain significancesingle nucleotide variantPyridoxal phosphate-responsive seizures

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.