Q107* (p.Gln107Ter) variant of DLG4 (Disks large homolog 4)
Q107* (p.Gln107Ter) in DLG4 (Disks large homolog 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q107* (p.Gln107Ter) variant details
- p.Gln107Ter
- rs2142886433
- ClinGen CA397719902
- ClinVar RCV001800190
- Ensembl rs2142886433
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)