EGFR NP_005219.2:p.E746_A750del

Preferred Label : EGFR NP_005219.2:p.E746_A750del;

NCIt synonyms : Epidermal Growth Factor Receptor E746_A750del; Proto-Oncogene c-ErbB-1 E746_A750del; EGFR p.E746_A750del; EGFR E746_A750del; NP_005219.2:p.Glu746_Ala750del; Receptor Tyrosine-Protein Kinase erbB-1 E746_A750del; EGFR NP_005219.2:p.Glu746_Ala750del; EGFR E746-A750 Mutation;

NCIt definition : A deletion of five amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the alanine at position 750.;

Details

Origin ID

C98537;

UMLS CUI

C3274226;

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_product_sequence_variation_encoded_by_gene_mutant
- EGFR Gene Mutation [NCIt concept]
- EGFR NM_005228.3:c.2235_2249del15 [NCIt concept]
- EGFR NM_005228.3:c.2236_2250del15 [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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