JAK2 NM_004972.3:c.1848_1849delinsCT

Preferred Label : JAK2 NM_004972.3:c.1848_1849delinsCT;

NCIt synonyms : JAK-2 c.1848_1849TG CT; JAK2 c.1848_1849delTGinsCT; NM_004972.3:c.1848_1849TG CT; NM_004972.3:c.1848_1849delTGinsCT; Janus Kinase 2 c.1848_1849TG CT; JTK10 c.1848_1849TG CT; JAK2 c.1848_1849TG CT; JTK10 c.1848_1849delTGinsCT; Janus Kinase 2 c.1848_1849delTGinsCT; JAK-2 c.1848_1849delTGinsCT; JAK2 NM_004972.3:c.1848_1849TG CT; NM_004972.3:c.1848_1849delinsCT; JAK2 NM_004972.3:c.1848_1849delTGinsCT;

NCIt definition : A complex substitution where the nucleotide sequence at positions 1848 and 1849 of the coding sequence of the JAK2 gene has changed from thymine-guanine to cytosine-thymine.;

Details

Origin ID

C105909;

UMLS CUI

C3827293;

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
- JAK2 NP_004963.1:p.V617F [NCIt concept]
- JAK2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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