F48C (p.Phe48Cys) variant of INS (Insulin)
F48C (p.Phe48Cys) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic/likely risk allele in the context of Diabetes mellitus, permanent neonatal 4; Neonatal diabetes mellitus. The record also includes published literature and structural context.
F48C (p.Phe48Cys) variant details
- p.Phe48Cys
- rs80356668
- ClinGen CA341285
- ClinVar RCV000014321
- ClinVar RCV001089456
- Likely pathogenic/Likely risk allele
- Diabetes mellitus, permanent neonatal 4; Neonatal diabetes mellitus
- Missense
- ClinVar: Likely pathogenic/Likely risk allele (Diabetes mellitus, permanent neonatal 4; Neonatal diabetes melli)
- 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)