EGFR NM_005228.3:c.2309_2310ins14

Preferred Label : EGFR NM_005228.3:c.2309_2310ins14;

NCIt synonyms : Epidermal Growth Factor Receptor Gene c.2309_2310ins14; HER1 c.2309_2310ins14; EGFR c.2309_2310insATGGCCAGCGTGGA; ERBB c.2309_2310ins14; NM_005228.3:c.2309_2310insATGGCCAGCGTGGA; EGFR NM_005228.3:c.2309_2310insATGGCCAGCGTGGA; EGFR c.2309_2310ins14; NM_005228.3:c.2309_2310ins14; ERBB1 c.2309_2310ins14; NM_005228.3:c.2296_2309dup;

NCIt definition : An insertion of 14 nucleotides, ATGGCCAGCGTGGA, between position 2309 and 2310 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98669;

UMLS CUI

C3274344;

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.D770fs*61 [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