S184C (p.Ser184Cys) variant of EYS (Protein eyes shut homolog)
S184C (p.Ser184Cys) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 25.
S184C (p.Ser184Cys) variant details
- p.Ser184Cys
- NCI-TCGA TCGA novel
- Uncertain significance
- Retinitis pigmentosa 25
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa 25)
- UniProt: Uncertain significance