R34* (p.Arg34Ter) variant of BRIP1 (Fanconi anemia group J protein)
R34* (p.Arg34Ter) in BRIP1 (Fanconi anemia group J protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- Ensembl rs2145852980
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available