C96Y (p.Cys96Tyr) variant of INS (Insulin)
C96Y (p.Cys96Tyr) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diabetes mellitus, permanent neonatal 4; Type 1 diabetes mellitus 2. The record also includes published literature and structural context.
C96Y (p.Cys96Tyr) variant details
- p.Cys96Tyr
- rs80356671
- ClinGen CA341283
- ClinVar RCV000014319
- ClinVar RCV000517445
- Conflicting interpretations
- Diabetes mellitus, permanent neonatal 4; Type 1 diabetes mellitus 2
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Diabetes mellitus, permanent neonatal 4; not provided; Neonatal)
- 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)