EGFR NM_005228.3:c.2309_2310delinsCCAGCGTGGAT

Preferred Label : EGFR NM_005228.3:c.2309_2310delinsCCAGCGTGGAT;

NCIt synonyms : NM_005228.3:c.2309_2310AC CCAGCGTGGAT; Epidermal Growth Factor Receptor Gene c.2309_2310AC CCAGCGTGGAT; EGFR c.2309_2310AC CCAGCGTGGAT; HER1 c.2309_2310AC CCAGCGTGGAT; NM_005228.3:c.2309_2310delACinsCCAGCGTGGAT; EGFR c.2309_2310delACinsCCAGCGTGGAT; ERBB1 c.2309_2310AC CCAGCGTGGAT; ERBB c.2309_2310AC CCAGCGTGGAT; NM_005228.3:c.2309_2310delinsCCAGCGTGGAT; EGFR NM_005228.3:c.2309_2310delACinsCCAGCGTGGAT;

NCIt definition : A complex substitution where the deletion of the nucleotide sequence adenine-cytosine at positions 2309 and 2310 of the coding sequence of the EGFR gene is followed by the insertion of 11 nucleotides, CCAGCGTGGAT.;

Details

Origin ID

C98620;

UMLS CUI

C3274302;

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_mutant_encodes_gene_product_sequence_variation
- EGFR NP_005219.2:p.V769_D770insASV [NCIt concept]
- EGFR Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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