EGFR Gene Mutation

Preferred Label : EGFR Gene Mutation;

NCIt synonyms : ERBB Gene Mutation; HER1 Gene Mutation; ERBB1 Gene Mutation; Epidermal Growth Factor Receptor Gene Mutation;

NCIt related terms : EGFR Mutation;

NCIt definition : A change in the nucleotide sequence of the EGFR gene.;

Details

Origin ID

C98357;

UMLS CUI

C3266992;

Automatic exact mappings (from CISMeF team)
- EGFR gene mutation [MedDRA Preferred Term]
- EGFR gene mutation analysis [OBSOLETE LOINC component]
- Epidermal growth factor receptor gene mutation [MedDRA LLT]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- EGFR gene mutation [MedDRA Preferred Term]
- Epidermal growth factor receptor gene mutation [MedDRA LLT]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Lung Squamous Cell Carcinoma and Lung Adenocarcinoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- 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.A750_E758del [NCIt concept]
- EGFR NP_005219.2:p.A750_K754del [NCIt concept]
- EGFR NP_005219.2:p.A750_K757del [NCIt concept]
- EGFR NP_005219.2:p.A763_Y764insFQEA [NCIt concept]
- EGFR NP_005219.2:p.A767_S768insTLA [NCIt concept]
- EGFR NP_005219.2:p.C797A [NCIt concept]
- EGFR NP_005219.2:p.C797S [NCIt concept]
- EGFR NP_005219.2:p.D761_E762insEAFQ [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insAPW [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insD [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insDG [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insG [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insGD [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insGL [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insGT [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insGV [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insMATP [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insN [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insNPH [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insSVD [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insSVP [NCIt concept]
- EGFR NP_005219.2:p.D770_N771insSVQ [NCIt concept]
- EGFR NP_005219.2:p.D770fs*61 [NCIt concept]
- EGFR NP_005219.2:p.E709* [NCIt concept]
- EGFR NP_005219.2:p.E746_A750del [NCIt concept]
- EGFR NP_005219.2:p.E746_E749del [NCIt concept]
- EGFR NP_005219.2:p.E746_P753del [NCIt concept]
- EGFR NP_005219.2:p.E746_R748del [NCIt concept]
- EGFR NP_005219.2:p.E746_S752del [NCIt concept]
- EGFR NP_005219.2:p.E746_T751del [NCIt concept]
- EGFR NP_005219.2:p.E746del [NCIt concept]
- EGFR NP_005219.2:p.G719A [NCIt concept]
- EGFR NP_005219.2:p.G719C [NCIt concept]
- EGFR NP_005219.2:p.G719D [NCIt concept]
- EGFR NP_005219.2:p.G719S [NCIt concept]
- EGFR NP_005219.2:p.G719V [NCIt concept]
- EGFR NP_005219.2:p.G719X [NCIt concept]
- EGFR NP_005219.2:p.G719fs*29 [NCIt concept]
- EGFR NP_005219.2:p.G796R [NCIt concept]
- EGFR NP_005219.2:p.G796S [NCIt concept]
- EGFR NP_005219.2:p.G796X [NCIt concept]
- EGFR NP_005219.2:p.H773_V774insAH [NCIt concept]
- EGFR NP_005219.2:p.H773_V774insG [NCIt concept]
- EGFR NP_005219.2:p.H773_V774insGH [NCIt concept]
- EGFR NP_005219.2:p.H773_V774insGNPH [NCIt concept]
- EGFR NP_005219.2:p.H773_V774insH [NCIt concept]
- EGFR NP_005219.2:p.H773_V774insNPH [NCIt concept]
- EGFR NP_005219.2:p.H773_V774insPH [NCIt concept]
- EGFR NP_005219.2:p.I740_P741insPVAIKI [NCIt concept]
- EGFR NP_005219.2:p.I744_K745insKIPVAI [NCIt concept]
- EGFR NP_005219.2:p.I789_L792del [NCIt concept]
- EGFR NP_005219.2:p.K29_N298insG [NCIt concept]
- EGFR NP_005219.2:p.K745_A750del [NCIt concept]
- EGFR NP_005219.2:p.K745_E746insVPVAIK [NCIt concept]
- EGFR NP_005219.2:p.K745_E749del [NCIt concept]
- EGFR NP_005219.2:p.K745_L747del [NCIt concept]
- EGFR NP_005219.2:p.L718Q [NCIt concept]
- EGFR NP_005219.2:p.L718V [NCIt concept]
- EGFR NP_005219.2:p.L718X [NCIt concept]
- EGFR NP_005219.2:p.L747_A750del [NCIt concept]
- EGFR NP_005219.2:p.L747_A755del [NCIt concept]
- EGFR NP_005219.2:p.L747_E749del [NCIt concept]
- EGFR NP_005219.2:p.L747_K754del [NCIt concept]
- EGFR NP_005219.2:p.L747_P753del [NCIt concept]
- EGFR NP_005219.2:p.L747_S752del [NCIt concept]
- EGFR NP_005219.2:p.L747_T751del [NCIt concept]
- EGFR NP_005219.2:p.L747del [NCIt concept]
- EGFR NP_005219.2:p.L792F [NCIt concept]
- EGFR NP_005219.2:p.L792H [NCIt concept]
- EGFR NP_005219.2:p.L792X [NCIt concept]
- EGFR NP_005219.2:p.L792Y [NCIt concept]
- EGFR NP_005219.2:p.L858A [NCIt concept]
- EGFR NP_005219.2:p.L858G [NCIt concept]
- EGFR NP_005219.2:p.L858K [NCIt concept]
- EGFR NP_005219.2:p.L858M [NCIt concept]
- EGFR NP_005219.2:p.L858P [NCIt concept]
- EGFR NP_005219.2:p.L858Q [NCIt concept]
- EGFR NP_005219.2:p.L858R [NCIt concept]
- EGFR NP_005219.2:p.L858W [NCIt concept]
- EGFR NP_005219.2:p.L861F [NCIt concept]
- EGFR NP_005219.2:p.L861P [NCIt concept]
- EGFR NP_005219.2:p.L861Q [NCIt concept]
- EGFR NP_005219.2:p.L861R [NCIt concept]
- EGFR NP_005219.2:p.L861V [NCIt concept]
- EGFR NP_005219.2:p.M766_A767insAI [NCIt concept]
- EGFR NP_005219.2:p.M766_A767insASV [NCIt concept]
- EGFR NP_005219.2:p.N756_L760del [NCIt concept]
- EGFR NP_005219.2:p.N771_P772insH [NCIt concept]
- EGFR NP_005219.2:p.N771_P772insN [NCIt concept]
- EGFR NP_005219.2:p.P753_I759del [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insDHP [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insDNP [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insNP [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insNPH [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insPR [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insQV [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insTHP [NCIt concept]
- EGFR NP_005219.2:p.P772_H773insYNP [NCIt concept]
- EGFR NP_005219.2:p.P772_V774insPHV [NCIt concept]
- EGFR NP_005219.2:p.R748_P753del [NCIt concept]
- EGFR NP_005219.2:p.R748_S752del [NCIt concept]
- EGFR NP_005219.2:p.S492R [NCIt concept]
- EGFR NP_005219.2:p.S752_I759del [NCIt concept]
- EGFR NP_005219.2:p.S752_V769del [NCIt concept]
- EGFR NP_005219.2:p.S768I [NCIt concept]
- EGFR NP_005219.2:p.S768_V769insAWT [NCIt concept]
- EGFR NP_005219.2:p.S768_V769insVAS [NCIt concept]
- EGFR NP_005219.2:p.T751_E758del [NCIt concept]
- EGFR NP_005219.2:p.T790M [NCIt concept]
- EGFR NP_005219.2:p.V765_M766insMAS [NCIt concept]
- EGFR NP_005219.2:p.V769_D770insASV [NCIt concept]
- EGFR NP_005219.2:p.V769_D770insCV [NCIt concept]
- EGFR NP_005219.2:p.V769_D770insDNV [NCIt concept]
- EGFR NP_005219.2:p.V769_D770insGSV [NCIt concept]
- EGFR NP_005219.2:p.V769_D770insGV [NCIt concept]
- EGFR NP_005219.2:p.V769_D770insGVV [NCIt concept]
- EGFR NP_005219.2:p.V769_D770insMASVD [NCIt concept]
- EGFR NP_005219.2:p.V774_C775insHV [NCIt concept]
- EGFR NP_005219.2:p.V774del [NCIt concept]
- EGFR NP_005219.2:p.V834del [NCIt concept]
- EGFR NP_005219.2:p.Y764_V765insHH [NCIt concept]
- EGFR Protein Variant [NCIt concept]
is_molecular_abnormality_of_disease
- Diffuse Midline Glioma, EGFR-Mutant [NCIt concept]
- EGFR-Positive Lung Adenocarcinoma [NCIt concept]
- EGFR-Positive Lung Non-Small Cell Carcinoma [NCIt concept]
- Transformed EGFR-Positive Lung Adenocarcinoma to Small Cell Carcinoma [NCIt concept]
- Transformed EGFR-Positive Lung Adenocarcinoma to Squamous Cell Carcinoma [NCIt concept]
- Transformed EGFR-Positive Lung Non-Small Cell Carcinoma to Small Cell Carcinoma [NCIt concept]
is_target
- EGFR Inhibitor ERAS-801 [NCIt concept]
- Zipalertinib [NCIt concept]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

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