D16G (p.Asp16Gly) variant of RYR1 (Ryanodine receptor 1)
D16G (p.Asp16Gly) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RYR1-related disorder.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- rs2513956227
- ClinGen CA405671307
- ClinVar RCV002591878
- Uncertain significance
- RYR1-related disorder
- Missense
- ClinVar: Uncertain significance (RYR1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance