R19* (p.Arg19Ter) variant of DCX (O43602)
R19* (p.Arg19Ter) in DCX (O43602) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- rs587783564
- ClinGen CA172001
- ClinVar RCV000145861
- Ensembl rs587783564
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available