N932S (p.Asn932Ser) variant of KCNMA1 (Q12791)
N932S (p.Asn932Ser) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome.
N932S (p.Asn932Ser) variant details
- p.Asn932Ser
- rs2549939213
- ClinGen CA377405516
- ClinVar RCV003623364
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance