Activating ESR1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the ESR1 gene that results in constitutive activation of estrogen receptor and its downstream signaling pathways.

**Synonyms:** - Activating ER Gene Mutation - Activating ERA Gene Mutation - Activating ESR Gene Mutation - Activating ESR1 Mutation - Activating ESRA Gene Mutation - Activating Estrogen Receptor 1 Gene Mutation - Activating Estrogen Receptor Gene Mutation - Activating NR3A1 Gene Mutation - ESR1 Activating Gene Mutation - ESR1 Activating Mutation - ESR1 Gain of Function Gene Mutation - ESR1 Gain of Function Mutation - Gain of Function ESR1 Gene Mutation - Gain of Function ESR1 Mutation