EGFR Exon 19 Insertion Mutation

Preferred Label : EGFR Exon 19 Insertion Mutation;

NCIt synonyms : EGFR Exon 19 Insertion; ERBB Exon 19 Insertion Mutation; Epidermal Growth Factor Receptor Gene Exon 19 Insertion Mutation; ERBB1 Exon 19 Insertion Mutation; HER1 Exon 19 Insertion Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of an in-frame insertion mutation occurring within exon 19 of the EGFR gene.;

NCI Metathesaurus CUI : CL522051;

Details

Origin ID

C134465;

UMLS CUI

C4525161;

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
- EGFR Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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