Variant (rsID / SNP)

rs138931842

rs138931842 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,367,485. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PNKPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:50367485
Cytoband: 19q13.33
HGVS: NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys)
Allele change: Missense_Y196C

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 12|History of neurodevelopmental disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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