Variant (rsID / SNP)
rs118192234
rs118192234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,044,908. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNQ2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:62044908
- Cytoband
- 20q13.33
- HGVS
- NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)
- Allele change
- Missense_R553Q
Associated conditions / phenotypes
Seizures, benign familial neonatal, 1|Early infantile epileptic encephalopathy with suppression bursts
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.