EGFR NM_005228.3:c.334_1137del804

Preferred Label : EGFR NM_005228.3:c.334_1137del804;

NCIt synonyms : EGFR c.334_1137del804; Epidermal Growth Factor Receptor Gene c.334_1137del804; EGFRvIII Gene Mutation; EGFRvIII Extracellular Domain Mutation; EGFRvIII Extracellular Domain Variant;

NCIt definition : A deletion of exons 2-7 of the EGFR gene corresponding to 804 nucleotides starting at position 334 through position 1137.;

Details

Origin ID

C101139;

UMLS CUI

C3640004;

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 NP_005219.2:p.K29_N298insG [NCIt concept]
- EGFR Protein Variant [NCIt concept]
is_target
- Autologous Anti-EGFR/Anti-IL13Ralpha2 CAR T-cells [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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