EGFR NM_005228.3:c.2125_2129delGAAAC

Preferred Label : EGFR NM_005228.3:c.2125_2129delGAAAC;

NCIt synonyms : ERBB c.2125_2129delGAAAC; ERBB1 c.2125_2129delGAAAC; Epidermal Growth Factor Receptor Gene c.2125_2129delGAAAC; NM_005228.3:c.2125_2129delGAAAC; EGFR c.2125_2129delGAAAC; HER1 c.2125_2129delGAAAC; EGFR NM_005228.3:c.2125_2129del; NM_005228.3:c.2125_2129del;

NCIt definition : A deletion five nucleotides, guanine-adenine-adenine-adenine-cytosine starting at position 2125 and ending with position 2129 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98531;

UMLS CUI

C3274220;

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.E709* [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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