G95* (p.Gly95Ter) variant of DMD (Dystrophin)
G95* (p.Gly95Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G95* (p.Gly95Ter) variant details
- p.Gly95Ter
- rs1557058415
- ClinGen CA412674570
- cosmic curated COSV55878
- ClinVar RCV000594366
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Practice parameter: corticosteroid treatment of Duchenne dystrophy [RETIRED]: report of the Quality Standards… (PMID 15642897)
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)