E45* (p.Glu45Ter) variant of FANCA (Fanconi anemia group A protein)
E45* (p.Glu45Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E45* (p.Glu45Ter) variant details
- p.Glu45Ter
- ESP rs142990858
- ExAC rs142990858
- TOPMed rs142990858
- gnomAD rs142990858
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available