EGFR NM_005228.3:c.2572C T

Preferred Label : EGFR NM_005228.3:c.2572C T;

NCIt synonyms : NM_005228.3:c.2572C T; ERBB1 c.2572C T; ERBB c.2572C T; Epidermal Growth Factor Receptor Gene c.2572C T; EGFR c.2572C T; HER1 c.2572C T;

NCIt definition : A nucleotide substitution at position 2572 of the coding sequence of the EGFR gene where cytosine has been mutated to thymine.;

NCIt note : Silent mutation. Encodes EGFR p.Leu597Leu.;

SNP ID : rs121913443;

Details

Origin ID

C98509;

UMLS CUI

C3274198;

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 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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