C76* (p.Cys76Ter) variant of NOTCH3 (Q9UM47)
C76* (p.Cys76Ter) in NOTCH3 (Q9UM47) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CADASIL1. The record also includes structural context.
C76* (p.Cys76Ter) variant details
- p.Cys76Ter
- Ensembl rs2145443753
- Uncertain significance
- in CADASIL1
- Stop Gained
- EBI: Variant of uncertain significance (in CADASIL1)
- UniProt: Uncertain significance (in CADASIL1)
- Structural context available