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Variant (rsID / SNP)

rs571119317

PNKP

rs571119317 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,367,448. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PNKPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:50367448
Cytoband
19q13.33
HGVS
NM_007254.4(PNKP):c.624C>T (p.Ala208=)
Allele change
Synonymous_A208A

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 12

Public references

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