Inactivating NBN Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the NBN gene that either inhibits expression or results in the translation of an inactive nibrin protein.

**Synonyms:** - Inactivating AT-V1 Gene Mutation - Inactivating AT-V2 Gene Mutation - Inactivating ATV Gene Mutation - Inactivating NBN Mutation - Inactivating NBS Gene Mutation - Inactivating NBS1 Gene Mutation - Inactivating Nibrin Gene Mutation - Inactivating Nijmegen Breakage Syndrome 1 Gene Mutation - Inactivating P95 Gene Mutation - NBN Gene Inactivation - NBN Inactivating Gene Mutation - NBN Inactivating Mutation - NBN Loss of Function Gene Mutation - NBN Loss of Function Mutation