C76G (p.Cys76Gly) variant of NOTCH3 (Q9UM47)
C76G (p.Cys76Gly) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CADASIL1. The record also includes structural context.
C76G (p.Cys76Gly) variant details
- p.Cys76Gly
- Ensembl rs1555729610
- Pathogenic
- in CADASIL1
- Missense
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available