EGFR NM_005228.3:c.1476C A

Preferred Label : EGFR NM_005228.3:c.1476C A;

NCIt synonyms : HER1 c.1476C A; ERBB1 c.1476C A; Epidermal Growth Factor Receptor Gene c.1476C A; ERBB c.1476C A; NM_005228.3:c.1476C A; EGFR c.1476C A; EGFR S492R Gene Mutation;

NCIt definition : A nucleotide substitution at position 1476 of the coding sequence of the EGFR gene where cytosine has been mutated to adenine.;

NCI Metathesaurus CUI : CL523045;

SNP ID : rs1057519860;

Details

Origin ID

C135730;

UMLS CUI

C4526010;

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.S492R [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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