Variant (rsID / SNP)
rs146027425
rs146027425 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPO. Location: chromosome 17, position 46,023,290. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PNPOPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:46023290
- Cytoband
- 17q21.32
- HGVS
- NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)
- Allele change
- Missense_R161C
Associated conditions / phenotypes
Pyridoxal phosphate-responsive seizures
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.