Inactivating NBN Gene Mutation

Preferred Label : Inactivating NBN Gene Mutation;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1661963;

Details

Origin ID

C179354;

UMLS CUI

C5555636;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- Homologous Recombination Repair Gene [NCIt concept]
- NBN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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