E96* (p.Glu96Ter) variant of GCK (Hexokinase-4)
E96* (p.Glu96Ter) in GCK (Hexokinase-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.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- rs2096281776
- ClinGen CA367402838
- ClinVar RCV001289437
- ClinVar RCV002465863
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)