C173884Level 6
Activating CBL Gene Mutation
**Semantic type:** Cell or Molecular Dysfunction
**Definition:** A change in the nucleotide sequence of the CBL gene that results in constitutive activation of both E3 ubiquitin-protein ligase CBL and its downstream signaling pathways.
**Synonyms:** - Activating CBL Mutation - Activating Cas-Br-M Murine Ecotropic Retroviral Transforming Sequence Gene Mutation - Activating Casitas B-Lineage Lymphoma Proto-Oncogene Mutation - Activating Cbl Proto-Oncogene Gene Mutation - Activating RNF55 Gene Mutation - Activating c-CBL Gene Mutation - CBL Activating Mutation
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