EGFR NM_005228.3:c.2369C T

Preferred Label : EGFR NM_005228.3:c.2369C T;

NCIt synonyms : HER1 c.2369C T; EGFR c.2369C T; Epidermal Growth Factor Receptor Gene c.2369C T; NM_005228.3:c.2369C T; ERBB1 c.2369C T; ERBB c.2369C T;

NCIt definition : A nucleotide substitution at position 2369 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.;

SNP ID : rs121434569;

Details

Origin ID

C98504;

UMLS CUI

C3274193;

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.T790M [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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