K139* (p.Lys139Ter) variant of EYS (Protein eyes shut homolog)
K139* (p.Lys139Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
K139* (p.Lys139Ter) variant details
- p.Lys139Ter
- rs2533028837
- ClinGen CA2739273188
- ClinVar RCV003716044
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic