E7* (p.Glu7Ter) variant of BRIP1 (Fanconi anemia group J protein)
E7* (p.Glu7Ter) 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.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- TOPMed rs1246321339
- gnomAD rs1246321339
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available