R55C (p.Arg55Cys) variant of INS (Insulin)
R55C (p.Arg55Cys) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/likely risk allele in the context of Monogenic diabetes; not provided; Diabetes mellitus type 1. The record also includes published literature.
R55C (p.Arg55Cys) variant details
- p.Arg55Cys
- rs121908261
- ClinGen CA123087
- ClinVar RCV000014324
- ClinVar RCV001558886
- Pathogenic/Likely pathogenic/Likely risk allele
- Monogenic diabetes; not provided; Diabetes mellitus type 1
- Missense
- ClinVar: Pathogenic/Likely pathogenic/Likely risk allele (Monogenic diabetes; not provided; Diabetes mellitus type 1)
- EBI: Pathogenic (in T1D2)
- UniProt: Pathogenic (in T1D2)
- Cited in: Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (PMID 18192540)