Y69* (p.Tyr69Ter) variant of DDX3X (ATP-dependent RNA helicase DDX3X)
Y69* (p.Tyr69Ter) 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 published literature and structural context.
Y69* (p.Tyr69Ter) variant details
- p.Tyr69Ter
- rs2147348697
- ClinGen CA412764889
- ClinVar RCV001785393
- Ensembl rs2147348697
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DDX3X-Related Neurodevelopmental Disorder. (PMID 32852922)