EGFR NM_005228.3:c.2321_2322insCCACGT

Preferred Label : EGFR NM_005228.3:c.2321_2322insCCACGT;

NCIt synonyms : Epidermal Growth Factor Receptor Gene c.2321_2322insCCACGT; HER1 c.2321_2322insCCACGT; ERBB1 c.2321_2322insCCACGT; EGFR c.2321_2322insCCACGT; NM_005228.3:c.2321_2322insCCACGT; ERBB c.2321_2322insCCACGT; NM_005228.3:c.2316_2321dup;

NCIt definition : An insertion of six nucleotides, cytosine-cytosine-adenine-cytosine-guanine-thymine, between position 2321 and 2322 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98697;

UMLS CUI

C3274368;

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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