EGFR NM_005228.3:c.2235_2249del15

Preferred Label : EGFR NM_005228.3:c.2235_2249del15;

NCIt synonyms : EGFR NM_005228.3:c.2235_2249delGGAATTAAGAGAAGC; NM_005228.3:c.2235_2249delGGAATTAAGAGAAGC; EGFR c.2235_2249del15; ERBB c.2235_2249del15; Epidermal Growth Factor Receptor Gene c.2235_2249del15; NM_005228.3:c.2235_2249del15; ERBB1 c.2235_2249del15; HER1 c.2235_2249del15; EGFR E746-A750 Gene Mutation; NM_005228.3:c.2235_2249del;

NCIt definition : A deletion of 15 nucleotides from the coding sequence of the EGFR gene from position 2235 through 2249.;

SNP ID : rs121913421;

Details

Origin ID

C98540;

UMLS CUI

C3274229;

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.E746_A750del [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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