EGFR NM_005228.5:c.2500G C

Preferred Label : EGFR NM_005228.5:c.2500G C;

NCIt synonyms : EGFR c.2500G C; NM_005228.5:c.2500G C; HER1 c.2500G C; ERBB1 c.2500G C; Epidermal Growth Factor Receptor Gene c.2500G C; ERBB c.2500G C;

NCIt definition : A nucleotide substitution at position 2500 of the coding sequence of the EGFR gene where guanine has been mutated to cytosine.;

NCI Metathesaurus CUI : CL1412658;

SNP ID : rs397517127;

Details

Origin ID

C175355;

UMLS CUI

C5446464;

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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