C109F (p.Cys109Phe) variant of INS (Insulin)
C109F (p.Cys109Phe) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus. The record also includes structural context.
C109F (p.Cys109Phe) variant details
- p.Cys109Phe
- rs2133672742
- ClinGen CA379120644
- ClinVar RCV002052031
- Ensembl rs2133672742
- Likely pathogenic
- Neonatal diabetes mellitus
- Missense
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available