EGFR NP_005219.2:p.L718X

Preferred Label : EGFR NP_005219.2:p.L718X;

NCIt synonyms : Proto-Oncogene c-ErbB-1 Leu718Xxx; Receptor Tyrosine-Protein Kinase erbB-1 Leu718Xxx; EGFR NP_005219.2:p.Leu718Xxx; EGFR L718X; NP_005219.2:p.L718X; Epidermal Growth Factor Receptor L718X; EGFR p.L718X; Proto-Oncogene c-ErbB-1 L718X; Receptor Tyrosine-Protein Kinase erbB-1 L718X; NP_005219.2:p.Leu718Xxx; EGFR Leu718Xxx; Epidermal Growth Factor Receptor Leu718Xxx; EGFR p.Leu718Xxx;

NCIt definition : A change in the amino acid residue at position 718 in the epidermal growth factor receptor protein where leucine has been replaced by another amino acid.;

NCI Metathesaurus CUI : CL545064;

Details

Origin ID

C147133;

UMLS CUI

C4687727;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- EGFR Exon 18 Mutation [NCIt concept]
- EGFR Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Epidermal Growth Factor Receptor [NCIt concept]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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