Q27* (p.Gln27Ter) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Q27* (p.Gln27Ter) in DDX3X (ATP-dependent RNA helicase DDX3X) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q27* (p.Gln27Ter) variant details
- p.Gln27Ter
- rs1602119250
- ClinGen CA412762492
- ClinVar RCV000999402
- Ensembl rs1602119250
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available