EGFR NP_005219.2:p.L718Q

Preferred Label : EGFR NP_005219.2:p.L718Q;

NCIt synonyms : EGFR L718Q; NP_005219.2:p.L718Q; Epidermal Growth Factor Receptor L718Q; EGFR p.L718Q; Proto-Oncogene c-ErbB-1 L718Q; EGFR Leu718Gln; NP_005219.2:p.Leu718Gln; Epidermal Growth Factor Receptor Leu718Gln; Receptor Tyrosine-Protein Kinase erbB-1 L718Q; EGFR p.Leu718Gln; Proto-Oncogene c-ErbB-1 Leu718Gln; Receptor Tyrosine-Protein Kinase erbB-1 Leu718Gln; EGFR NP_005219.2:p.Leu718Gln;

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: A change in the amino acid residue at position 718 in the epidermal growth factor receptor protein where leucine has been replaced by glutamine.;

NCIt note : This variation may be associated with development of osimertinib resistance.;

NCI Metathesaurus CUI : CL545036;

Details

Origin ID

C147021;

UMLS CUI

C4687654;

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]
- EGFR NM_005228.3:c.2153T>A [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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