K57N (p.Lys57Asn) variant of ABCC8 (Q09428)
K57N (p.Lys57Asn) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia. The record also includes structural context.
K57N (p.Lys57Asn) variant details
- p.Lys57Asn
- ExAC rs750479324
- gnomAD rs750479324
- Uncertain significance
- Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familia
- Missense
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypog)
- UniProt: Uncertain significance
- Structural context available