C58* (p.Cys58Ter) variant of DSG1 (Desmoglein-1)
C58* (p.Cys58Ter) in DSG1 (Desmoglein-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C58* (p.Cys58Ter) variant details
- p.Cys58Ter
- rs2511042832
- ClinGen CA402127901
- ClinVar RCV003566041
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available