N132H (p.Asn132His) variant of KCNMA1 (Q12791)
N132H (p.Asn132His) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome.
N132H (p.Asn132His) variant details
- p.Asn132His
- TOPMed rs1033528866
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- UniProt: Uncertain significance