Non-Synonymous RB1 Gene Mutation

Preferred Label : Non-Synonymous RB1 Gene Mutation;

NCIt synonyms : Non-Synonymous RB Gene Mutation; RB1 Missense Mutation; Non-Synonymous RB1 Mutation; Non-Synonymous Retinoblastoma Gene Mutation; RB Missense Mutation; RB1 Gene Missense Mutation; Non-Synonymous Retinoblastoma 1 Gene Mutation; Non-Synonymous RB Mutation;

NCIt definition : A change in the nucleotide sequence in the RB1 gene that encodes an amino acid substitution in the retinoblastoma-associated protein.;

NCI Metathesaurus CUI : CL1412981;

Details

Origin ID

C175694;

UMLS CUI

C5446683;

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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