G51C (p.Gly51Cys) variant of RHO (Rhodopsin)
G51C (p.Gly51Cys) in RHO (Rhodopsin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in RP4. The record also includes structural context.
G51C (p.Gly51Cys) variant details
- p.Gly51Cys
- Ensembl rs104893792
- Pathogenic
- in RP4
- Missense
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available