EGFR NM_005228.3:c.2290_2291ins12

Preferred Label : EGFR NM_005228.3:c.2290_2291ins12;

NCIt synonyms : NM_005228.3:c.2290_2291ins12; ERBB c.2290_2291ins12; EGFR c.2302_2303insTCCAGGAAGCCT; HER1 c.2290_2291ins12; EGFR NM_005228.3:c.2302_2303insTCCAGGAAGCCT; Epidermal Growth Factor Receptor Gene c.2290_2291ins12; ERBB1 c.2290_2291ins12; NM_005228.3:c.2302_2303insTCCAGGAAGCCT; EGFR c.2290_2291ins12;

NCIt definition : An insertion of 12 nucleotides, TCCAGGAAGCCT, between position 2302 and 2303 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98612;

UMLS CUI

C3274294;

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.A763_Y764insFQEA [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) :

You can consult :

recommendations
documents concerning education
documents for patients