F41S (p.Phe41Ser) variant of ABCC8 (Q09428)
F41S (p.Phe41Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 1. The record also includes published literature and structural context.
F41S (p.Phe41Ser) variant details
- p.Phe41Ser
- rs2496929792
- ClinGen CA379789885
- ClinVar RCV003151531
- ClinVar RCV004786882
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)