Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Thr334Ile (p.T334I)
(
ENST00000372348.9,
ENST00000318560.6 )
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 ) - Associated Disease
- Myeloid Leukemia, Chronic
- Source Database
- DisGeNET
- Description
- Analysis of mutations in the BCR-ABL1 kinase domain, using direct sequencing: detection of the T315I mutation in bone marrow CD34+ cells of a patient with chronic myelogenous leukemia 6 months prior to its emergence in peripheral blood.
- Pubmed
- 22489663
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.371405336343011
- Year of publication
- 2012
Drugs