Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs115259839

PNKP

rs115259839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,367,315. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PNKPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:50367315
Cytoband
19q13.33
HGVS
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
Allele change
Missense_T217S

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.