KIT NM_000222.2:c.2466T R

Preferred Label : KIT NM_000222.2:c.2466T R;

NCIt synonyms : CD117 c.2466T R; KIT c.2466T R; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog c.2466T R; KIT Proto-Oncogene Tyrosine Protein Kinase c.2466T R; NM_000222.2:c.2466T R; c-KIT c.2466T R;

NCIt definition : A nucleotide substitution at position 2466 of the coding sequence of the KIT gene where thymine has been mutated to any purine (adenine or guanine).;

NCI Metathesaurus CUI : CL556305;

SNP ID : rs121913514;

Details

Origin ID

C155703;

UMLS CUI

C4744336;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- KIT NP_000213.1:p.N822K [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) :

You can consult :

recommendations
documents concerning education
documents for patients