EGFR NM_005228.5:c.2237_2254del

Preferred Label : EGFR NM_005228.5:c.2237_2254del;

NCIt synonyms : NM_005228.5:c.2237_2254del; EGFR c.2237_2254del; ERBB c.2237_2254del; Epidermal Growth Factor Receptor Gene c.2237_2254del; ERBB1 c.2237_2254del; HER1 c.2237_2254del; EGFR NM_005228.5:c.2237_2254del18; EGFR NM_005228.5:c.2237_2254delAATTAAGAGAAGCAACAT;

NCIt definition : A deletion of 18 nucleotides from the coding sequence of the EGFR gene from position 2237 through 2254.;

NCI Metathesaurus CUI : CL1915392;

SNP ID : rs121913422;

Details

Origin ID

C200731;

UMLS CUI

C5856387;

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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