EGFR NM_005228.3:c.2316_2321dup

Preferred Label : EGFR NM_005228.3:c.2316_2321dup;

NCIt synonyms : EGFR c.delGinsCCACGTG; ERBB1 c.2322_2322G CCACGTG; HER1 c.2322_2322G CCACGTG; EGFR c.2322_2322G CCACGTG; NM_005228.3:c.2322delGinsCCACGTG; ERBB c.2322_2322G CCACGTG; NM_005228.3:c.2322_2322G CCACGTG; Epidermal Growth Factor Receptor Gene c.2322_2322G CCACGTG; NM_005228.3:c.2316_2321dup;

NCIt related terms : EGFR NM_005228.3:c.2322delGinsCCACGTG;

NCIt definition : A complex nucleotide substitution where the deletion of guanine at position 2322 is followed by the insertion of seven nucleotides, cytosine-cytosine-adenine-cytosine-guanine-thymine-guanine, into the coding sequence of the EGFR gene.;

Details

Origin ID

C98698;

UMLS CUI

C3274369;

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.V774_C775insHV [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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