C96S (p.Cys96Ser) variant of INS (Insulin)
C96S (p.Cys96Ser) in INS (Insulin) is a missense change. The available record places it in the context of Diabetes mellitus, permanent neonatal 4; Type 1 diabetes mellitus 2. The record also includes published literature and structural context.
C96S (p.Cys96Ser) variant details
- p.Cys96Ser
- rs80356671
- ClinGen CA266173
- ClinVar RCV000059612
- UniProt VAR 063737
- not provided
- Diabetes mellitus, permanent neonatal 4; Type 1 diabetes mellitus 2
- Missense
- ClinVar: not provided (Permanent neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Structural context available
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)
- Cited in: Insulin gene mutations as a cause of permanent neonatal diabetes. (PMID 17855560)