C-KIT Somatic Point Mutation

Preferred Label : C-KIT Somatic Point Mutation;

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

NCIt definition : A point mutation of the KIT gene that originated in non-germline cells.;

Details

Origin ID

C38407;

UMLS CUI

C1511354;

Molecular abnormality of diseases
- Aggressive Systemic Mastocytosis [NCIt concept]
- Aggressive Systemic Mastocytosis with an Associated Germ Cell Tumor [NCIt concept]
- Bone Marrow Mastocytosis [NCIt concept]
- Indolent Systemic Mastocytosis [NCIt concept]
- Malignant Mastocytosis [NCIt concept]
- Mast Cell Leukemia [NCIt concept]
- Mast Cell Leukemia with an Associated Myeloid Neoplasm [NCIt concept]
- Mast Cell Sarcoma [NCIt concept]
- Recurrent Malignant Mastocytosis [NCIt concept]
- Recurrent Mast Cell Leukemia [NCIt concept]
- Refractory Malignant Mastocytosis [NCIt concept]
- Smoldering Systemic Mastocytosis [NCIt concept]
- Smoldering Systemic Mastocytosis with an Associated Myeloid Neoplasm [NCIt concept]
- Systemic Mastocytosis with an Associated Germ Cell Tumor [NCIt concept]
- Systemic Mastocytosis with an Associated Myeloid Neoplasm [NCIt concept]
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]
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- KIT Gene [NCIt concept]
- KIT wt Allele [NCIt concept]
molecular_abnormality_involves_gene
- KIT Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

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