NBN Gene Mutation

Preferred Label : NBN Gene Mutation;

NCIt synonyms : NBS Gene Mutation; ATV Gene Mutation; Nijmegen Breakage Syndrome 1 Gene Mutation; P95 Gene Mutation; NBS1 Gene Mutation; AT-V1 Gene Mutation; AT-V2 Gene Mutation; Nibrin Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the NBN gene.;

NCI Metathesaurus CUI : CL514427;

Details

Origin ID

C131806;

UMLS CUI

C4331829;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease 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) :

You can consult :

recommendations
documents concerning education
documents for patients