E300G (p.Glu300Gly) variant of GCK (Hexokinase-4)
E300G (p.Glu300Gly) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young; Monogenic diabetes. The record also includes published literature and structural context.
E300G (p.Glu300Gly) variant details
- p.Glu300Gly
- rs2484507251
- ClinGen CA367400078
- ClinVar RCV003994909
- ClinVar RCV004823249
- Likely pathogenic
- Maturity-onset diabetes of the young; Monogenic diabetes
- Missense
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young; Monogenic diabetes)
- EBI: Likely pathogenic (in MODY2)
- UniProt: Likely pathogenic (in MODY2)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)