C189Y (p.Cys189Tyr) variant of EYS (Protein eyes shut homolog)
C189Y (p.Cys189Tyr) 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.
C189Y (p.Cys189Tyr) variant details
- p.Cys189Tyr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Uncertain significance
- Retinitis pigmentosa 25
- Missense
- ClinVar: Uncertain significance (Retinitis pigmentosa 25)
- UniProt: Uncertain significance