C228F (p.Cys228Phe) variant of EYS (Protein eyes shut homolog)
C228F (p.Cys228Phe) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes published literature.
C228F (p.Cys228Phe) variant details
- p.Cys228Phe
- rs999213534
- ClinGen CA364789369
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10067
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)