EGFR NP_005219.2:p.D770fs*61

Preferred Label : EGFR NP_005219.2:p.D770fs*61;

NCIt synonyms : Receptor Tyrosine-Protein Kinase erbB-1 D770fs*61; Proto-Oncogene c-ErbB-1 D770fs*61; NP_005219.2:p.Asp770fs*61; NP_005219.2:p.D770fs*61; EGFR NP_005219.2:p.Asp770fs*61; EGFR p.D770fs*61; Epidermal Growth Factor Receptor D770fs*61; EGFR D770fs*61; NP_005219.2:p.Asp770Glufs*61; NP_005219.2:p.D770Efs*61;

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 60 non-canonic amino acids followed by a stop codon after the aspartic acid residue at position 770.;

Details

Origin ID

C98668;

UMLS CUI

C3274343;

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.2309_2310ins14 [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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