W99* (p.Trp99Ter) variant of GCK (Hexokinase-4)
W99* (p.Trp99Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHF3. The record also includes published literature and structural context.
W99* (p.Trp99Ter) variant details
- p.Trp99Ter
- rs2484535524
- cosmic curated COSV61755
- ClinGen CA367402804
- ClinVar RCV002285555
- Pathogenic
- in HHF3
- Stop Gained
- EBI: Pathogenic (in HHF3)
- UniProt: Pathogenic (in HHF3)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)