Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
PDGFRA p.Thr674Ile (p.T674I), ENSG00000282278 p.Thr434Ile (p.T434I)
(
ENST00000257290.10 )
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 )
PDGFRA p.Thr674Ile (p.T674I), ENSG00000282278 p.Thr434Ile (p.T434I) ( ENST00000257290.10 )
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 ) - Associated Disease
- Idiopathic hypereosinophilic syndrome
- Source Database
- DisGeNET
- Description
- Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL.
- Pubmed
- 25431951
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs