Y39* (p.Tyr39Ter) variant of EYS (Protein eyes shut homolog)
Y39* (p.Tyr39Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
Y39* (p.Tyr39Ter) variant details
- p.Tyr39Ter
- rs2533030270
- ClinGen CA364790617
- ClinVar RCV003468037
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)