EGFR NP_005219.2:p.E709*

Preferred Label : EGFR NP_005219.2:p.E709*;

NCIt synonyms : EGFR E709fs*1; EGFR NP_005219.2:p.Glu709fs*1; Receptor Tyrosine-Protein Kinase erbB-1 E709fs*1; NP_005219.2:p.Glu709fs*1; Epidermal Growth Factor Receptor E709fs*1; Proto-Oncogene c-ErbB-1 E709fs*1; EGFR p.E709fs*1; EGFR NP_005219.2:p.Glu709Ter;

NCIt related terms : EGFR NP_005219.2:p.E709fs*1;

NCIt definition : A change in the amino acid composition of the epidermal growth factor receptor protein where a frame shift mutation results in the placement of a stop codon just after the glutamic acid residue at position 709.;

Details

Origin ID

C98530;

UMLS CUI

C3274219;

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.2125_2129delGAAAC [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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