G7* (p.Gly7Ter) variant of RAD51D (O75771)
G7* (p.Gly7Ter) in RAD51D (O75771) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G7* (p.Gly7Ter) variant details
- p.Gly7Ter
- rs1064795913
- ClinGen CA399092548
- ClinVar RCV001231386
- Ensembl rs1064795913
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available