Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142143566

PNKP

rs142143566 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,367,658. 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
19:50367658
Cytoband
19q13.33
HGVS
NM_007254.4(PNKP):c.501G>A (p.Val167=)
Allele change
Synonymous_V167V

Associated conditions / phenotypes

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.