G70E (p.Gly70Glu) variant of ABCC8 (Q09428)
G70E (p.Gly70Glu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary hyperinsulinism. The record also includes published literature and structural context.
G70E (p.Gly70Glu) variant details
- p.Gly70Glu
- UniProt VAR 031352
- Likely pathogenic
- Hereditary hyperinsulinism
- Missense
- ClinVar: Likely pathogenic (Hereditary hyperinsulinism)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Structural context available
- Cited in: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. (PMID 15579781)
- Cited in: Clinical features of 52 neonates with hyperinsulinism. (PMID 10202168)