R2234S (p.Arg2234Ser) variant of RYR1 (Ryanodine receptor 1)
R2234S (p.Arg2234Ser) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of King Denborough syndrome.
R2234S (p.Arg2234Ser) variant details
- p.Arg2234Ser
- ExAC rs201465595
- TOPMed rs201465595
- gnomAD rs201465595
- Pathogenic
- King Denborough syndrome
- Missense
- ClinVar: Pathogenic (King Denborough syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic