EGFR NM_005228.3:c.2156G A

Preferred Label : EGFR NM_005228.3:c.2156G A;

NCIt synonyms : Epidermal Growth Factor Receptor Gene c.2156G A; HER1 c.2156G A; NM_005228.3:c.2156G A; ERBB1 c.2156G A; EGFR c.2156G A; ERBB c.2156G A;

NCIt definition : A nucleotide substitution at position 2156 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.;

SNP ID : rs121913428;

Details

Origin ID

C98526;

UMLS CUI

C3274215;

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.G719D [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