EGFR NM_005228.3:c.2320_2321insCCCACG

Preferred Label : EGFR NM_005228.3:c.2320_2321insCCCACG;

NCIt synonyms : NM_005228.3:c.2320_2321insCCCACG; EGFR c.2320_2321insCCCACG; ERBB c.2320_2321insCCCACG; NM_005228.4(EGFR):c.2315_2320dupCCCACG; NM_005228.3:c.2315_2320insCCCACG; EGFR c.2315_2320insCCCACG; Epidermal Growth Factor Receptor Gene c.2320_2321insCCCACG; ERBB c.2315_2320insCCCACG; EGFR NM_005228.4:c.2315_2320dupCCCACG; ERBB1 c.2320_2321insCCCACG; Epidermal Growth Factor Receptor Gene c.2315_2320insCCCACG; ERBB1 c.2315_2320insCCCACG; HER1 c.2320_2321insCCCACG; NM_005228.3:c.2315_2320dupCCCACG; EGFR c.2315_2320dupCCCACG; HER1 c.2315_2320insCCCACG;

NCIt definition : An insertion of six nucleotides, cytosine-cytosine-cytosine-adenine-cytosine-guanine, between position 2320 and 2321 of the coding sequence of the EGFR gene.;

NCI Metathesaurus CUI : CL526376;

SNP ID : rs397517114;

Details

Origin ID

C138920;

UMLS CUI

C4528141;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- EGFR NP_005219.2:p.H773_V774insAH [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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