JAK2 NM_004972.3:c.2792A G

Preferred Label : JAK2 NM_004972.3:c.2792A G;

NCIt synonyms : NM_004972.3:c.2792A G; JAK-2 c.2792A G; JAK2 c.2792A G; JTK10 c.2792A G; Janus Kinase 2 c.2792A G;

NCIt definition : A nucleotide substitution at position 2792 of the coding sequence of the JAK2 gene where adenine has been mutated to guanine.;

Details

Origin ID

C105911;

UMLS CUI

C3829477;

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.Y931C [NCIt concept]
- JAK2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients