EGFR NM_005228.3:c.2572C A

Preferred Label : EGFR NM_005228.3:c.2572C A;

NCIt synonyms : EGFR c.2572C A; ERBB1 c.2572C A; NM_005228.3:c.2572C A; HER1 c.2572C A; ERBB c.2572C A; Epidermal Growth Factor Receptor Gene c.2572C A;

NCIt definition : A nucleotide substitution at position 2572 of the coding sequence of the EGFR gene where cytosine has been mutated to adenine.;

SNP ID : rs121913443;

Details

Origin ID

C98511;

UMLS CUI

C3274200;

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.L858M [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