EGFR NM_005228.3:c.2239_2247del9

Preferred Label : EGFR NM_005228.3:c.2239_2247del9;

NCIt synonyms : EGFR NM_005228.3:c.2239_2247delTTAAGAGAA; Epidermal Growth Factor Receptor Gene c.2239_2247del9; ERBB c.2239_2247del9; ERBB1 c.2239_2247del9; NM_005228.3:c.2239_2247delTTAAGAGAA; HER1 c.2239_2247del9; NM_005228.3:c.2239_2247del9; EGFR c.2239_2247del9; NM_005228.3:c.2239_2247del;

NCIt definition : A deletion of nine nucleotides from the coding sequence of the EGFR gene from position 2239 through 2247.;

SNP ID : rs121913436;

Details

Origin ID

C98555;

UMLS CUI

C3274243;

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.L747_E749del [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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