EGFR NM_005228.3:c.2311_2312ins12

Preferred Label : EGFR NM_005228.3:c.2311_2312ins12;

NCIt synonyms : NM_005228.3:c.2311_2312insTGGCCACCCCCA; ERBB1 c.2311_2312ins12; Epidermal Growth Factor Receptor Gene c.2311_2312ins12; EGFR c.2311_2312insTGGCCACCCCCA; EGFR NM_005228.3:c.2311_2312insTGGCCACCCCCA; ERBB c.2311_2312ins12; EGFR c.2311_2312ins12; NM_005228.3:c.2311_2312ins12; HER1 c.2311_2312ins12;

NCIt definition : An insertion of 12 nucleotides, TGGCCACCCCCA, between position 2311 and 2312 of the coding sequence of the EGFR gene.;

Details

Origin ID

C98653;

UMLS CUI

C3274328;

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.D770_N771insMATP [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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