EGFR NP_005219.2:p.E746_P753del

Preferred Label : EGFR NP_005219.2:p.E746_P753del;

NCIt synonyms : EGFR E746_P753del; EGFR p.E746_P753del; EGFR NP_005219.2:p.Glu746_Pro753del; NP_005219.2:p.Glu746_Pro753del; Epidermal Growth Factor Receptor E746_P753del; Receptor Tyrosine-Protein Kinase erbB-1 E746_P753del; Proto-Oncogene c-ErbB-1 E746_P753del;

NCIt definition : A deletion of eight amino acids from the epidermal growth factor receptor protein from the glutamic acid at position 746 through the proline at position 753.;

Details

Origin ID

C98544;

UMLS CUI

C3274232;

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]
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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