C10* (p.Cys10Ter) variant of DMD (Dystrophin)

Name: DMD C10* (p.Cys10Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

C10* (p.Cys10Ter) 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.

C10* (p.Cys10Ter) variant details

p.Cys10Ter
rs2521941756
ClinGen CA412675103
ClinVar RCV003835003
ClinVar RCV005637080
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)