C35C (p.Cys35Cys) variant of RYR1 (Ryanodine receptor 1)
C35C (p.Cys35Cys) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
C35C (p.Cys35Cys) variant details
- p.Cys35Cys
- gnomAD 19-38440804-C-T
- Synonymous
- CADD 9.11
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Literature evidence available