Activating NOTCH2 Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the NOTCH2 gene that results in constitutive activation of both neurogenic locus notch homolog protein 2 and its downstream signaling pathways.

**Synonyms:** - Activating AGS2 Gene Mutation - Activating HJCYS Gene Mutation - Activating NOTCH2 Gene Mutation - Activating Notch (Drosophila) Homolog 2 Gene Mutation - Activating Notch 2 Gene Mutation - Activating Notch Homolog 2 Gene Mutation - Activating hN2 Gene Mutation - NOTCH2 Activating Gene Mutation - NOTCH2 Activating Mutation