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Variant (rsID / SNP)

rs146478958

PNKP

rs146478958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,364,549. 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
19:50364549
Cytoband
19q13.33
HGVS
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)
Allele change
Missense_E508K

Associated conditions / phenotypes

Microcephaly, seizures, and developmental delay|History of neurodevelopmental disorder|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.