Q45* (p.Gln45Ter) variant of DMD (Dystrophin)

Name: DMD Q45* (p.Gln45Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

Q45* (p.Gln45Ter) 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.

Q45* (p.Gln45Ter) variant details

p.Gln45Ter
rs794727499
ClinGen CA275173
ClinVar RCV000177187
ClinVar RCV005089888
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)