Variant (rsID / SNP)
rs267606956
rs267606956 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,365,681. Clinical significance in the table: Pathogenic.
Reference-table entries
PNKPPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:50365681
- Cytoband
- 19q13.33
- HGVS
- NM_007254.4(PNKP):c.976G>A (p.Glu326Lys)
- Allele change
- Missense_E326K
Associated conditions / phenotypes
Microcephaly, seizures, and developmental delay|Abnormality of the nervous system
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.