C43* (p.Cys43Ter) variant of NOTCH3 (Q9UM47)
C43* (p.Cys43Ter) in NOTCH3 (Q9UM47) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact in the context of in CADASIL1. The record also includes structural context.
C43* (p.Cys43Ter) variant details
- p.Cys43Ter
- NCI-TCGA Cosmic COSV9965
- Variant assessed as somatic; high impact.
- in CADASIL1
- Stop Gained
- UniProt: Variant assessed as somatic; high impact. (in CADASIL1)
- Structural context available