E65* (p.Glu65Ter) variant of DLG4 (Disks large homolog 4)
E65* (p.Glu65Ter) 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 experimental measurements, published literature, and structural context.
E65* (p.Glu65Ter) variant details
- p.Glu65Ter
- rs2142888007
- ClinGen CA397720239
- ClinVar RCV001800186
- ClinVar RCV002541336
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.0396
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)