C96R (p.Cys96Arg) variant of INS (Insulin)
C96R (p.Cys96Arg) 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; Type 1 diabetes mellitus 2. The record also includes structural context.
C96R (p.Cys96Arg) variant details
- p.Cys96Arg
- rs1845839718
- ClinGen CA379120861
- ClinVar RCV001175322
- ClinVar RCV003446632
- Likely pathogenic/Likely risk allele
- Diabetes mellitus, permanent neonatal 4; Type 1 diabetes mellitus 2
- Missense
- ClinVar: Likely pathogenic/Likely risk allele (Diabetes mellitus, permanent neonatal 4; Type 1 diabetes mellitu)
- EBI: Likely pathogenic (in PNDM4)
- UniProt: Likely pathogenic (in PNDM4)
- Structural context available