C42* (p.Cys42Ter) variant of BRIP1 (Fanconi anemia group J protein)
C42* (p.Cys42Ter) in BRIP1 (Fanconi anemia group J protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
C42* (p.Cys42Ter) variant details
- p.Cys42Ter
- ExAC rs749323434
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available