EGFR NM_005228.3:c.2572_2573delinsAA

Preferred Label : EGFR NM_005228.3:c.2572_2573delinsAA;

NCIt synonyms : NM_005228.3:c.2572_2573delCTinsAA; EGFR c.2572_2573CT AA; HER1 c.2572_2573CT AA; ERBB c.2572_2573delCTinsAA; Epidermal Growth Factor Receptor Gene c.2572_2573CT AA; ERBB c.2572_2573CT AA; NM_005228.3:c.2572_2573CT AA; ERBB1 c.2572_2573CT AA; NM_005228.3:c.2572_2573delinsAA; EGFR NM_005228.3:c.2572_2573delCTinsAA;

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-adenine.;

Details

Origin ID

C98508;

UMLS CUI

C3274197;

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.L858K [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) :

You can consult :

recommendations
documents concerning education
documents for patients