C67* (p.Cys67Ter) variant of CRB1 (Protein crumbs homolog 1)
C67* (p.Cys67Ter) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
C67* (p.Cys67Ter) variant details
- p.Cys67Ter
- Ensembl rs1658656722
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available