PDGFRA Exon 18 Mutation

Preferred Label : PDGFRA Exon 18 Mutation;

NCIt synonyms : PDGFR-2 Exon 18 Mutation; CD140A Exon 18 Mutation; PDGFR2 Exon 18 Mutation; RHEPDGFRA Exon 18 Mutation;

NCIt related terms : Exon 18;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 18 of the PDGFRA gene located within 4q11-q13.;

Details

Origin ID

C116399;

UMLS CUI

C3898046;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Sarcoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- PDGFRA Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- PDGFRA Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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