Non-synonymous KIT Gene Mutation

Preferred Label : Non-synonymous KIT Gene Mutation;

NCIt synonyms : Non-synonymous c-KIT Gene Mutation; Non-synonymous CD117 Gene Mutation; Non-synonymous V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation; C-KIT Missense Mutation; Non-synonymous KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation; KIT Missense Mutation;

NCIt definition : A point mutation in the KIT gene that encodes an amino acid substitution in the mast/stem cell growth factor receptor Kit protein.;

NCI Metathesaurus CUI : CL524475;

Details

Origin ID

C136635;

UMLS CUI

C4526843;

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
- 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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