E93A (p.Glu93Ala) variant of GCK (Hexokinase-4)
E93A (p.Glu93Ala) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabetes of the young. The record also includes published literature and structural context.
E93A (p.Glu93Ala) variant details
- p.Glu93Ala
- rs2484535641
- ClinGen CA367402868
- ClinVar RCV002468458
- Uncertain significance
- Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabetes of the young
- Missense
- ClinVar: Uncertain significance (Hyperinsulinemic hypoglycemia, familial, 3; Maturity-onset diabe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)