EGFR NM_005228.5:c.2504A T

Preferred Label : EGFR NM_005228.5:c.2504A T;

NCIt synonyms : ERBB c.2504A T; EGFR c.2504A T; NM_005228.5:c.2504A T; HER1 c.2504A T; ERBB1 c.2504A T; Epidermal Growth Factor Receptor Gene c.2504A T;

NCIt definition : A nucleotide substitution at position 2504 of the coding sequence of the EGFR gene where adenine has been mutated to thymine.;

NCI Metathesaurus CUI : CL1412705;

SNP ID : rs397517128;

Details

Origin ID

C175368;

UMLS CUI

C5446475;

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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