W112* (p.Trp112Ter) variant of DMD (Dystrophin)
W112* (p.Trp112Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W112* (p.Trp112Ter) variant details
- p.Trp112Ter
- rs398123936
- ClinGen CA266997
- ClinVar RCV000080574
- Ensembl rs398123936
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available