Variant (rsID / SNP)
rs796052621
rs796052621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,076,109. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNQ2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:62076109
- Cytoband
- 20q13.33
- HGVS
- NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
- Allele change
- Missense_R198Q
Associated conditions / phenotypes
Inborn genetic diseases|Seizures, benign familial neonatal, 1|Developmental and epileptic encephalopathy, 7|Early infantile epileptic encephalopathy with suppression bursts|See cases|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.