KIT Exon 17 Mutation

Preferred Label : KIT Exon 17 Mutation;

NCIt synonyms : CD117 Exon 17 Mutation; c-KIT Exon 17 Mutation; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation; KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation;

NCIt related terms : Exon 17; CKIT Mutation - Ex17;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.;

Details

Origin ID

C116396;

UMLS CUI

C3898646;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- AML Authorized Value Terminology [NCIt concept]
- AML Minimal Residual Disease Table [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- 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.K818Q [NCIt concept]
- KIT NP_000213.1:p.L813P [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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