Q44* (p.Gln44Ter) variant of DCX (O43602)
Q44* (p.Gln44Ter) in DCX (O43602) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs587783522
- ClinGen CA171853
- ClinVar RCV000145809
- Ensembl rs587783522
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available