K105* (p.Lys105Ter) variant of DMD (Dystrophin)
K105* (p.Lys105Ter) in DMD (Dystrophin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K105* (p.Lys105Ter) variant details
- p.Lys105Ter
- rs2148850223
- ClinGen CA412674504
- ClinVar RCV003346731
- ClinVar RCV004812482
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available