EGFR NM_005228.3:c.2231_2232ins18

Preferred Label : EGFR NM_005228.3:c.2231_2232ins18;

NCIt synonyms : EGFR c.2231_2232insTAAAATTCCCGTCGCTAT; NM_005228.3:c.2231_2232insTAAAATTCCCGTCGCTAT; ERBB c.2231_2232ins18; Epidermal Growth Factor Receptor Gene c.2231_2232ins18; HER1 c.2231_2232ins18; ERBB1 c.2231_2232ins18; EGFR NM_005228.3:c.2231_2232insTAAAATTCCCGTCGCTAT; EGFR c.2231_2232ins18; NM_005228.3:c.2231_2232ins18; NM_005228.3:c.2214_2231dup;

NCIt definition : An insertion of 18 nucleotides, TAAAATTCCCGTCGCTAT, between position 2231 and 2232 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98595;

UMLS CUI

C3274278;

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.I744_K745insKIPVAI [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