G684D (p.Gly684Asp) variant of ABCC8 (Q09428)
G684D (p.Gly684Asp) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1. The record also includes structural context.
G684D (p.Gly684Asp) variant details
- p.Gly684Asp
- cosmic curated COSV56849
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1)
- UniProt: Likely pathogenic
- Structural context available