EGFR NP_005219.2:p.L747_A750del

Preferred Label : EGFR NP_005219.2:p.L747_A750del;

NCIt synonyms : EGFR NP_005219.2:p.Leu747_Ala750del; EGFR p.L747_A750del; EGFR L747_A750del; Epidermal Growth Factor Receptor L747_A750del; NP_005219.2:p.Leu747_Ala750del; Receptor Tyrosine-Protein Kinase erbB-1 L747_A750del; Proto-Oncogene c-ErbB-1 L747_A750del;

NCIt definition : A deletion of four amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the alanine at position 750.;

Details

Origin ID

C98552;

UMLS CUI

C3274240;

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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