Inactivating SETD2 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the SETD2 gene that inhibits expression or results in the translation of either low-activity or inactive forms of the histone-lysine methyltransferase SETD2 protein.

**Synonyms:** - Inactivating HBP231 Gene Mutation - Inactivating HIF-1 Gene Mutation - Inactivating HIP-1 Gene Mutation - Inactivating HYPB Gene Mutation - Inactivating KMT3A Gene Mutation - Inactivating LLS Gene Mutation - Inactivating SET Domain Containing 2 Gene Mutation - Inactivating SET2 Gene Mutation - Inactivating p231HBP Gene Mutation - SETD2 Deficiency - SETD2 Deficient - SETD2 Inactivating Gene Mutation - SETD2 Loss - SETD2 Loss of Function Mutation