EGFR NM_005228.3:c.2310_2311insGGCACA

Preferred Label : EGFR NM_005228.3:c.2310_2311insGGCACA;

NCIt synonyms : Epidermal Growth Factor Receptor Gene c.2310_2311insGGCACA; ERBB1 c.2310_2311insGGCACA; HER1 c.2310_2311insGGCACA; NM_005228.3:c2310_2311insGGCACA; EGFR c.2305_2310dupGGCACA; EGFR c.2310_2311insGGCACA; ERBB c.2310_2311insGGCACA;

NCIt definition : An insertion of six nucleotides, guanine-guanine-cytosine-adenine-cytosine-adenine, between position 2310 and 2311 of the coding sequence of the EGFR gene.;

NCI Metathesaurus CUI : CL526404;

Details

Origin ID

C138913;

UMLS CUI

C4528134;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- EGFR NP_005219.2:p.D770_N771insGT [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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