RB1 Gene Frameshift Mutation

Preferred Label : RB1 Gene Frameshift Mutation;

NCIt synonyms : RB1 Frameshift Mutation; Retinoblastoma Gene Frameshift Mutation; RB Gene Frameshift Mutation; Retinoblastoma 1 Gene Frameshift Mutation; RB Frameshift Mutation;

NCIt definition : A deletion or insertion mutation in the RB1 gene that shifts the reading frame for the transcript.;

NCI Metathesaurus CUI : CL1412986;

Details

Origin ID

C175691;

UMLS CUI

C5448034;

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
- RB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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