Variant (rsID / SNP)
rs17679445
rs17679445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPO. Location: chromosome 17, position 46,022,065. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PNPOBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:46022065
- Cytoband
- 17q21.32
- HGVS
- NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
- Allele change
- Missense_R116Q
Associated conditions / phenotypes
Pyridoxal phosphate-responsive seizures|Seizure
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.