Variant (rsID / SNP)
rs34472250
rs34472250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,368,466. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PNKPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:50368466
- Cytoband
- 19q13.33
- HGVS
- NM_007254.4(PNKP):c.416G>A (p.Arg139His)
- Allele change
- Missense_R139H
Associated conditions / phenotypes
Microcephaly, seizures, and developmental delay|Microcephaly, seizures, and developmental delay|Ataxia - oculomotor apraxia type 4|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.