A2428S (p.Ala2428Ser) variant of RYR1 (Ryanodine receptor 1)
A2428S (p.Ala2428Ser) 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. The record also includes published literature.
A2428S (p.Ala2428Ser) variant details
- p.Ala2428Ser
- rs193922809
- ClinGen CA405669469
- ClinVar RCV003990362
- TOPMed rs193922809
- Likely pathogenic
- Central core myopathy
- Missense
- ClinVar: Likely pathogenic (Central core myopathy)
- EBI: Pathogenic (in MHS1)
- UniProt: Pathogenic (in MHS1)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)