Variant (rsID / SNP)

rs144362146

rs144362146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPO. Location: chromosome 17, position 46,024,085. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PNPOConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:46024085
Cytoband: 17q21.32
HGVS: NM_018129.4(PNPO):c.723C>G (p.Ser241=)
Allele change: Synonymous_S241S

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.