M1V (p.Met1Val) variant of INS (Insulin)
M1V (p.Met1Val) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Hyperproins. The record also includes population frequency data and published literature.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs757124361
- ClinGen CA5818208
- ClinVar RCV001946765
- ClinVar RCV002492128
- Pathogenic/Likely pathogenic
- Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal 4; Hyperproins
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonata)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)