G85* (p.Gly85Ter) variant of EYS (Protein eyes shut homolog)
G85* (p.Gly85Ter) 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.
G85* (p.Gly85Ter) variant details
- p.Gly85Ter
- rs1582376797
- ClinGen CA364790309
- ClinVar RCV003460075
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)