EGFR NM_005228.3:c.2307_2308insTGCGTG

Preferred Label : EGFR NM_005228.3:c.2307_2308insTGCGTG;

NCIt synonyms : EGFR c.2307_2308insTGCGTG; ERBB c.2307_2308insTGCGTG; HER1 c.2307_2308insTGCGTG; ERBB1 c.2307_2308insTGCGTG; NM_005228.3:c.2307_2308insTGCGTG; Epidermal Growth Factor Receptor Gene c.2307_2308insTGCGTG;

NCIt definition : An insertion of six nucleotides, thymine-guanine-cytosine-guanine-thymine-guanine, between position 2307 and 2308 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98623;

UMLS CUI

C3274304;

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_D770insCV [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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