G4743V (p.Gly4743Val) variant of RYR1 (Ryanodine receptor 1)
G4743V (p.Gly4743Val) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Central core myopathy.
G4743V (p.Gly4743Val) variant details
- p.Gly4743Val
- TOPMed rs193922869
- Likely pathogenic
- Central core myopathy
- Missense
- ClinVar: Likely pathogenic (Central core myopathy)
- EBI: Likely pathogenic (in CMYO1A)
- UniProt: Likely pathogenic (in CMYO1A)