E65* (p.Glu65Ter) variant of DMD (Dystrophin)
E65* (p.Glu65Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E65* (p.Glu65Ter) variant details
- p.Glu65Ter
- NCI-TCGA Cosmic COSV5591
- Ensembl rs2148984839
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available