EGFR Exon 18 Mutation

Preferred Label : EGFR Exon 18 Mutation;

NCIt synonyms : Epidermal Growth Factor Receptor Gene Exon 18 Mutation; ERBB1 Exon 18 Mutation; HER1 Exon 18 Mutation; ERBB Exon 18 Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 18 of the EGFR gene.;

NCI Metathesaurus CUI : CL508677;

Details

Origin ID

C128661;

UMLS CUI

C4289658;

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.G719A [NCIt concept]
- EGFR NP_005219.2:p.G719C [NCIt concept]
- EGFR NP_005219.2:p.G719D [NCIt concept]
- EGFR NP_005219.2:p.G719S [NCIt concept]
- EGFR NP_005219.2:p.G719V [NCIt concept]
- EGFR NP_005219.2:p.G719X [NCIt concept]
- EGFR NP_005219.2:p.L718Q [NCIt concept]
- EGFR NP_005219.2:p.L718V [NCIt concept]
- EGFR NP_005219.2:p.L718X [NCIt concept]
- 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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