Variant (rsID / SNP)

rs11079804

rs11079804 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPO. Location: chromosome 17, position 46,020,698. Clinical significance in the table: Benign.

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Reference-table entries

PNPOBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:46020698
Cytoband: 17q21.32
HGVS: NM_018129.4(PNPO):c.165C>T (p.Ser55=)
Allele change: Synonymous_S55S

Associated conditions / phenotypes

Pyridoxal phosphate-responsive seizures|Seizure

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.