E160* (p.Glu160Ter) variant of DLG4 (Disks large homolog 4)
E160* (p.Glu160Ter) 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.
E160* (p.Glu160Ter) variant details
- p.Glu160Ter
- rs2142885279
- ClinGen CA397719155
- ClinVar RCV001800192
- Ensembl rs2142885279
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)