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Variant (rsID / SNP)

rs144284975

PNKP

rs144284975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,367,640. 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
19:50367640
Cytoband
19q13.33
HGVS
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
Allele change
Synonymous_D173D

Associated conditions / phenotypes

History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12|Microcephaly, seizures, and developmental delay

Public references

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