EGFR NP_005219.2:p.G719fs*29

Preferred Label : EGFR NP_005219.2:p.G719fs*29;

NCIt synonyms : EGFR G719fs*29; Epidermal Growth Factor Receptor G719fs*29; EGFR p.G719fs*29; Receptor Tyrosine-Protein Kinase erbB-1 G719fs*29; Proto-Oncogene c-ErbB-1 G719fs*29; EGFR NP_005219.2:p.Gly719fs*29; NP_005219.2:p.Gly719fs*29;

NCIt definition : A change in the amino acid composition of the epidermal growth factor receptor protein where a frameshift mutation results in the insertion of 28 non-canonic amino acids followed by a stop codon after the glycine residue at position 719.;

Details

Origin ID

C98532;

UMLS CUI

C3274221;

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.2156delG [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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