KIT Exon 13 Mutation

Preferred Label : KIT Exon 13 Mutation;

NCIt synonyms : c-KIT Exon 13 Mutation; CD117 Exon 13 Mutation; KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 13 Mutation; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 13 Mutation;

NCIt related terms : Exon 13;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 13 of the KIT gene located within 4q11-q12.;

Details

Origin ID

C104673;

UMLS CUI

C3641851;

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
- KIT NP_000213.1:p.G648D [NCIt concept]
- KIT Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- KIT Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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