Activating FGFR3 Gene Mutation

Preferred Label : Activating FGFR3 Gene Mutation;

NCIt synonyms : Activating Fibroblast Growth Factor Receptor 3 Gene Mutation; Activating CD333 Gene Mutation; Activating FGFR-3 Gene Mutation; FGFR3 Activating Mutation; Activating JTK4 Gene Mutation; FGFR3 Gain of Function Gene Mutation; Gain of Function FGFR3 Mutation; FGFR3 Gain of Function Mutation; Activating FGFR3 Mutation;

NCIt definition : A change in the nucleotide sequence of the FGFR3 gene that that results in constitutive activation of fibroblast growth factor 3 and its downstream signaling pathways.;

NCI Metathesaurus CUI : CL540201;

Details

Origin ID

C142132;

UMLS CUI

C4688462;

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]
gene_mutant_encodes_gene_product_sequence_variation
- FGFR3 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- FGFR3 Gene [NCIt concept]
- Fibroblast Growth Factor Receptor Family Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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