Q175* (p.Gln175Ter) variant of EYS (Protein eyes shut homolog)
Q175* (p.Gln175Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Q175* (p.Gln175Ter) variant details
- p.Gln175Ter
- rs2533028337
- ClinGen CA364789729
- ClinVar RCV003069948
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic