S37* (p.Ser37Ter) variant of EYS (Protein eyes shut homolog)
S37* (p.Ser37Ter) 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.
S37* (p.Ser37Ter) variant details
- p.Ser37Ter
- rs2533030372
- ClinGen CA364790630
- ClinVar RCV003468051
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)