EGFR NP_005219.2:p.V769_D770insASV

Preferred Label : EGFR NP_005219.2:p.V769_D770insASV;

NCIt synonyms : EGFR p.V769_D770insASV; EGFR NP_005219.2:p.Val769_Asp770insAlaSerVal; Receptor Tyrosine-Protein Kinase erbB-1 V769_D770insASV; Proto-Oncogene c-ErbB-1 V769_D770insASV; NP_005219.2:p.Val769_Asp770insAlaSerVal; Epidermal Growth Factor Receptor V769_D770insASV; EGFR V769_D770insASV; EGFR Asp770_Asn771 AlaSerValAspAsn; NP_005219.2:p.A767_V769dup; EGFR p. Asp770_Asn771 AlaSerValAspAsn; EGFR Ala767_Val769dupAlaSerVal; EGFR A767_V769dupASV; NP_005219.2:p.Ala767_Val769dup; EGFR p.D770_N771 ASVDN; EGFR p.A767_V769dupASV; EGFR p.Ala767_Val769dupAlaSerVal; EGFR D770_N771 ASVDN;

NCIt related terms : EGFR Exon 20 Insertion (D770_N771 ASVDN); EGFR Exon 20 Insertion (A767_V769dupASV); EGFR Exon 20 Insertion (V769_D770insASV);

NCIt definition : An insertion of the amino acid sequence alanine-serine-valine between the valine at position 769 and the aspartic acid at position 770 of the epidermal growth factor receptor protein.;

Details

Origin ID

C98616;

UMLS CUI

C3274298;

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.2307_2308ins9 [NCIt concept]
- EGFR NM_005228.3:c.2308_2309ins9 [NCIt concept]
- EGFR NM_005228.3:c.2309_2310delinsCCAGCGTGGAT [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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