G47V (p.Gly47Val) variant of INS (Insulin)
G47V (p.Gly47Val) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, permanent neonatal 4. The record also includes published literature and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- rs80356667
- ClinGen CA341643
- ClinVar RCV000020205
- ClinVar RCV003445081
- Uncertain significance
- Diabetes mellitus, permanent neonatal 4
- Missense
- ClinVar: Uncertain significance (Diabetes mellitus, permanent neonatal 4)
- 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)