Variant (rsID / SNP)

rs377328326

rs377328326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPO. Location: chromosome 17, position 46,023,351. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PNPOUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:46023351
Cytoband: 17q21.32
HGVS: NM_018129.4(PNPO):c.542G>A (p.Arg181Gln)
Allele change: Missense_R181Q

Associated conditions / phenotypes

Pyridoxal phosphate-responsive seizures

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.