EGFR NM_005228.3:c.2219_2220ins18

Preferred Label : EGFR NM_005228.3:c.2219_2220ins18;

NCIt synonyms : ERBB1 c.2219_2220ins18; Epidermal Growth Factor Receptor Gene c.2219_2220ins18; EGFR c.2219_2220ins18; HER1 c.2219_2220ins18; ERBB c.2219_2220ins18; EGFR NM_005228.3:c.2219_2220insTCCCGTCGCTATTAAAAT; EGFR c.2219_2220insTCCCGTCGCTATTAAAAT; NM_005228.3:c.2219_2220ins18; NM_005228.3:c.2219_2220insTCCCGTCGCTATTAAAAT; NM_005228.3:c.2214_2231dup;

NCIt definition : An insertion of 18 nucleotides, TCCCGTCGCTATTAAAAT, between position 2219 and 2220 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98593;

UMLS CUI

C3274276;

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.I740_P741insPVAIKI [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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