Variant (rsID / SNP)
rs796052643
rs796052643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNQ2. Location: chromosome 20, position 62,069,991. Clinical significance in the table: Pathogenic.
Reference-table entries
KCNQ2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:62069991
- Cytoband
- 20q13.33
- HGVS
- NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly)
- Allele change
- Missense_A337G
Associated conditions / phenotypes
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.