D98* (p.Asp98Ter) variant of DMD (Dystrophin)
D98* (p.Asp98Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
D98* (p.Asp98Ter) variant details
- p.Asp98Ter
- rs797044756
- ClinGen CA275307
- ClinVar RCV000178886
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available