A61N (p.Ala61Asn) variant of KCNQ3 (O43525)
A61N (p.Ala61Asn) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The record also includes structural context.
A61N (p.Ala61Asn) variant details
- p.Ala61Asn
- rs2537398419
- ClinGen CA2580078588
- ClinVar RCV003089425
- Uncertain significance
- Benign neonatal seizures
- Missense
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available