T135L (p.Thr135Leu) variant of EYS (Protein eyes shut homolog)
T135L (p.Thr135Leu) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature.
T135L (p.Thr135Leu) variant details
- p.Thr135Leu
- UniProt VAR 063439
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: EYS is a major gene for rod-cone dystrophies in France. (PMID 20333770)