EGFR NM_005228.3:c.2572_2573delinsAG

Preferred Label : EGFR NM_005228.3:c.2572_2573delinsAG;

NCIt synonyms : ERBB c.2572_2573CT AG; EGFR c.2572_2573CT AG; HER1 c.2572_2573CT AG; NM_005228.3:c.2572_2573CT AG; ERBB1 c.2572_2573CT AG; Epidermal Growth Factor Receptor Gene c.2572_2573CT AG; NM_005228.3:c.2572_2573delCTinsAG; EGFR c.2572_2573delCTinsAG; NM_005228.3:c.2572_2573delinsAG; NM_005228.3:c.2572_2573inv;

NCIt related terms : EGFR NM_005228.3:c.2572_2573delCTinsAG;

NCIt definition : A complex substitution where the nucleotide sequence at positions 2572 and 2573 of the coding sequence of the EGFR gene has changed from cytosine-thymine to adenine-guanine.;

Details

Origin ID

C98518;

UMLS CUI

C3274207;

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.L858R [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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