E12* (p.Glu12Ter) variant of DMD (Dystrophin)
E12* (p.Glu12Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- NCI-TCGA Cosmic COSV9992
- cosmic curated COSV99926
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available