EGFR NM_005228.3:c.2298_2299insGCCATA

Preferred Label : EGFR NM_005228.3:c.2298_2299insGCCATA;

NCIt synonyms : HER1 c.2298_2299insGCCATA; ERBB1 c.2298_2299insGCCATA; Epidermal Growth Factor Receptor Gene c.2298_2299insGCCATA; ERBB c.2298_2299insGCCATA; NM_005228.3:c.2298_2299insGCCATA; EGFR c.2298_2299insGCCATA;

NCIt definition : An insertion of six nucleotides, guanine-cytosine-cytosine-adenine-thymine-adenine, between position 2232 and 2233 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98607;

UMLS CUI

C3274290;

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.M766_A767insAI [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) :

You can consult :

recommendations
documents concerning education
documents for patients