EGFR NP_005219.2:p.L747_E749del

Preferred Label : EGFR NP_005219.2:p.L747_E749del;

NCIt synonyms : Epidermal Growth Factor Receptor L747_E749del; NP_005219.2:p.Leu747_Glu749delLeuArgGlu; EGFR NP_005219.2:p.Leu747_Glu749delLeuArgGlu; EGFR p.L747_E749del; Receptor Tyrosine-Protein Kinase erbB-1 L747_E749del; Proto-Oncogene c-ErbB-1 L747_E749del; EGFR L747_E749del;

NCIt definition : A deletion of three amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the glutamic acid at position 749.;

Details

Origin ID

C98554;

UMLS CUI

C3274242;

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.2239_2247del9 [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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