Variant (rsID / SNP)

rs145615734

rs145615734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,365,838. 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: 19:50365838
Cytoband: 19q13.33
HGVS: NM_007254.4(PNKP):c.893C>T (p.Ala298Val)
Allele change: Missense_A298V

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 12

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.