Activating NOTCH1 Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the NOTCH1 gene that results in constitutive activation of both neurogenic locus notch homolog protein 1 and its downstream signaling pathways.

**Synonyms:** - Activating NOTCH1 Gene Mutation - Activating Notch 1 Gene Mutation - Activating Notch Homolog 1 Gene Mutation - Activating TAN1 Gene Mutation - Activating hN1 Gene Mutation - NOTCH1 Activating Gene Mutation - NOTCH1 Activating Mutation