KIT NM_000222.2:c.2492T C

Preferred Label : KIT NM_000222.2:c.2492T C;

NCIt synonyms : c-KIT c.2492T C; NM_000222.2:c.2492T C; KIT Proto-Oncogene Tyrosine Protein Kinase c.2492T C; CD117 c.2492T C; KIT c.2492T C; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog c.2492T C;

NCIt definition : A nucleotide substitution at position 2492 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.;

NCI Metathesaurus CUI : CL556312;

Details

Origin ID

C155714;

UMLS CUI

C4744346;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- KIT NP_000213.1:p.L831P [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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