G2097V (p.Gly2097Val) variant of DMD (Dystrophin)
G2097V (p.Gly2097Val) in DMD (Dystrophin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuromuscular disease caused by qualitative or quantitative defects of dystrophi. The record also includes published literature and structural context.
G2097V (p.Gly2097Val) variant details
- p.Gly2097Val
- rs2519918676
- ClinGen CA412665488
- ClinVar RCV003084929
- ClinVar RCV003465962
- Likely pathogenic
- Neuromuscular disease caused by qualitative or quantitative defects of dystrophi
- Missense
- ClinVar: Likely pathogenic (Neuromuscular disease caused by qualitative or quantitative defe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. (PMID 16322188)
- Cited in: Dystrophinopathies. (PMID 20301298)