EGFR NM_005228.3:c.2283_2284ins12

Preferred Label : EGFR NM_005228.3:c.2283_2284ins12;

NCIt synonyms : EGFR c.2283_2284insGAAGCCTTCCAG; Epidermal Growth Factor Receptor Gene c.2283_2284ins12; ERBB c.2283_2284ins12; HER1 c.2283_2284ins12; ERBB1 c.2283_2284ins12; EGFR c.2283_2284ins12; NM_005228.3:c.2283_2284insGAAGCCTTCCAG; EGFR NM_005228.3:c.2283_2284insGAAGCCTTCCAG; NM_005228.3:c.2283_2284ins12; NM_005228.3:c.2283_2284ins; NM_005228.3:c.2290_2291insTCCAGGAAGCCT; NM_005228.5:c.2284-5_2290dup;

NCIt definition : An insertion of 12 nucleotides, GAAGCCTTCCAG, between position 2283 and 2284 of the coding sequence of the EGFR gene.;

SNP ID : rs397517106;

Details

Origin ID

C98603;

UMLS CUI

C3274286;

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.D761_E762insEAFQ [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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