KIT NM_000222.2:c.1727T C

Preferred Label : KIT NM_000222.2:c.1727T C;

NCIt synonyms : c-KIT c.1727T C; NM_000222.2:c.1727T C; KIT c.1727T C; CD117 c.1727T C; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog c.1727T C; KIT Proto-Oncogene Tyrosine Protein Kinase c.1727T C;

NCIt related terms : KIT L576P (c.1727T C) mutation;

NCIt definition : A nucleotide substitution at position 1727 of the coding sequence of the KIT gene where thymine has been mutated to cytosine.;

NCI Metathesaurus CUI : CL950787;

SNP ID : rs121913513;

Details

Origin ID

C158895;

UMLS CUI

C5204054;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Melanoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [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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