G41R (p.Gly41Arg) variant of DES (Desmin)

Name: DES G41R (p.Gly41Arg) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-10
License: https://catvariant.com/terms-of-use

G41R (p.Gly41Arg) in DES (Desmin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

G41R (p.Gly41Arg) variant details

p.Gly41Arg
rs2545246000
ClinGen CA2740096471
ClinVar RCV003808417
Pathogenic
Missense
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
Cited in: Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies [RETIRED]: report of… (PMID 25313375)