Activating EGFR Exon 19 Deletion Mutation

Preferred Label : Activating EGFR Exon 19 Deletion Mutation;

NCIt synonyms : Gain of Function EGFR Exon 19 Gene Deletion Mutation; Activating ERBB Exon 19 Deletion Mutation; Activating Epidermal Growth Factor Receptor Exon 19 Deletion Mutation; Activating EGFR Ex19Del Mutation; Activating EGFR Exon 19 Gene Deletion Mutation; Activating HER1 Exon 19 Deletion Mutation; Gain of Function EGFR Exon 19 Deletion Mutation; EGFR Exon 19 Activating Gene Deletion Mutation; Activating ERBB1 Exon 19 Deletion Mutation; EGFR Exon 19 Activating Deletion Mutation; Activating Ex19Del Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of a deletion mutation in exon 19 of the EGFR gene that results in constitutive epidermal growth factor receptor-dependent signal transduction and activation of downstream signaling pathways.;

NCI Metathesaurus CUI : CL1778514;

Détails

Origin ID

C185939;

UMLS CUI

C5670172;

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
- EGFR Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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