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Variant (rsID / SNP)

rs3739186

PNKP

rs3739186 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,367,486. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNKPBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:50367486
Cytoband
19q13.33
HGVS
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)
Allele change
Missense_Y196N

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.