Activating GNAQ Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the GNAQ gene that results in constitutive activation of both guanine nucleotide-binding protein G(q) subunit alpha and its downstream signaling pathways.

**Synonyms:** - Activating CMC1 Gene Mutation - Activating G Protein Subunit Alpha q Gene Mutation - Activating G-ALPHA-q Gene Mutation - Activating GAQ Gene Mutation - Activating GNAQ Mutation - Activating Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide Gene Mutation - Activating SWS Gene Mutation - GNAQ Activating Gene Mutation - GNAQ Activating Mutation