EGFR NM_005228.5:c.2125G A

Preferred Label : EGFR NM_005228.5:c.2125G A;

NCIt synonyms : NM_005228.5:c.2125G A; HER1 c.2125G A; ERBB1 c.2125G A; Epidermal Growth Factor Receptor Gene c.2125G A; ERBB c.2125G A; EGFR c.2125G A;

NCIt definition : A nucleotide substitution at position 2125 of the coding sequence of the EGFR gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL1412708;

SNP ID : rs727504256;

Details

Origin ID

C175365;

UMLS CUI

C5446472;

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]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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