EGFR NM_005228.3:c.2232_2233ins18

Preferred Label : EGFR NM_005228.3:c.2232_2233ins18;

NCIt synonyms : ERBB1 c.2232_2233ins18; NM_005228.3:c.2232_2233ins18; EGFR c.2232_2233ins18; NM_005228.3:c.2232_2233insAAAATTCCCGTCGCTATC; HER1 c.2232_2233ins18; ERBB c.2232_2233ins18; EGFR c.2232_2233insAAAATTCCCGTCGCTATC; Epidermal Growth Factor Receptor Gene c.2232_2233ins18; EGFR NM_005228.3:c.2232_2233insAAAATTCCCGTCGCTATC; NM_005228.3:c.2217_2234dup;

NCIt definition : An insertion of 18 nucleotides, AAAATTCCCGTCGCTATC, between position 2232 and 2233 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98596;

UMLS CUI

C3274279;

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) :

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