KIT NM_000222.2:c.1924A G

Preferred Label : KIT NM_000222.2:c.1924A G;

NCIt synonyms : v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog c.1924A G; KIT Proto-Oncogene Tyrosine Protein Kinase c.1924A G; c-KIT c.1924A G; NM_000222.2:c.1924A G; CD117 c.1924A G; KIT c.1924A G;

NCIt related terms : KIT K642E (c.1942A G) mutation;

NCIt definition : A nucleotide substitution at position 1924 of the coding sequence of the KIT gene where adenine has been mutated to guanine.;

NCI Metathesaurus CUI : CL556286;

SNP ID : rs121913512;

Details

Origin ID

C155680;

UMLS CUI

C4744323;

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]
gene_mutant_encodes_gene_product_sequence_variation
- KIT NP_000213.1:p.K642E [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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