Variant (rsID / SNP)
rs118192215
rs118192215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,070,004. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNQ2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:62070004
- Cytoband
- 20q13.33
- HGVS
- NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)
- Allele change
- Missense_R333W
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.