C43G (p.Cys43Gly) variant of INS (Insulin)
C43G (p.Cys43Gly) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely risk allele in the context of not provided; Type 2 diabetes mellitus. The record also includes published literature and structural context.
C43G (p.Cys43Gly) variant details
- p.Cys43Gly
- rs80356666
- ClinGen CA214063
- ClinVar RCV000020204
- ClinVar RCV000030069
- Pathogenic/Likely risk allele
- not provided; Type 2 diabetes mellitus
- Missense
- ClinVar: Pathogenic/Likely risk allele (not provided; Type 2 diabetes mellitus)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Structural context available
- Cited in: Insulin gene mutations as a cause of permanent neonatal diabetes. (PMID 17855560)
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)