K66* (p.Lys66Ter) variant of DMD (Dystrophin)

Name: DMD K66* (p.Lys66Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

K66* (p.Lys66Ter) 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.

K66* (p.Lys66Ter) variant details

p.Lys66Ter
rs1603447072
ClinGen CA412674774
ClinVar RCV000990758
Ensembl rs1603447072
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)