EGFR NM_005228.5:c.2232_2249delinsAAA

Preferred Label : EGFR NM_005228.5:c.2232_2249delinsAAA;

NCIt synonyms : EGFR E746-A750 Gene Mutation; NM_005228.5:c.2232_2249delinsAAA; EGFR c.2232_2249delinsAAA; ERBB c.2232_2249delinsAAA; Epidermal Growth Factor Receptor Gene c.2232_2249delinsAAA; ERBB1 c.2232_2249delinsAAA; HER1 c.2232_2249delinsAAA;

NCIt definition : A complex substitution where the nucleotides in the coding sequence of the EGFR gene from position 2232 through 2249 have been deleted and replaced with adenine-adenine-adenine.;

NCI Metathesaurus CUI : CL1773373;

SNP ID : rs397517094;

Details

Origin ID

C185279;

UMLS CUI

C5575286;

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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