EGFR NP_005219.2:p.L747_S752del

Preferred Label : EGFR NP_005219.2:p.L747_S752del;

NCIt synonyms : EGFR p.L747_S752del; Receptor Tyrosine-Protein Kinase erbB-1 L747_S752del; Proto-Oncogene c-ErbB-1 L747_S752del; EGFR L747_S752del; NP_005219.2:p.Leu747_Ser752delLeuArgGluAlaThrSer; EGFR NP_005219.2:p.Leu747_Ser752delLeuArgGluAlaThrSer; Epidermal Growth Factor Receptor L747_S752del;

NCIt definition : A deletion of six amino acids from the epidermal growth factor receptor protein from the leucine at position 747 through the serine at position 752.;

Details

Origin ID

C98559;

UMLS CUI

C3274247;

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_product_sequence_variation_encoded_by_gene_mutant
- EGFR Gene Mutation [NCIt concept]
- EGFR NM_005228.3:c.2239_2256del18 [NCIt concept]
gene_product_variant_of_gene_product
- Epidermal Growth Factor Receptor [NCIt concept]
molecular_abnormality_involves_gene
- EGFR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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