K61* (p.Lys61Ter) variant of DMD (Dystrophin)
K61* (p.Lys61Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
K61* (p.Lys61Ter) variant details
- p.Lys61Ter
- rs2524949516
- ClinGen CA412674824
- ClinVar RCV002470679
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely 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)