M1V (p.Met1Val) variant of ABCC8 (Q09428)
M1V (p.Met1Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, permanent neonatal 3; Diabetes mellitus, transient neonatal. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2496931481
- ClinGen CA379790517
- ClinVar RCV003062345
- ClinVar RCV005045198
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 3; Diabetes mellitus, transient neonatal
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 3; Diabetes mellitus, tran)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)