Q60* (p.Gln60Ter) variant of DMD (Dystrophin)

Name: DMD Q60* (p.Gln60Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

Q60* (p.Gln60Ter) 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.

Q60* (p.Gln60Ter) variant details

p.Gln60Ter
rs128626233
ClinGen CA341040
ClinVar RCV000011990
ClinVar RCV000517214
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. (PMID 7951253)
Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)