Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 p.Ser342Ter (p.S342*)
(
ENST00000241393.4,
ENST00000409817.1,
ENST00000466288.1,
ENST00000696136.1,
ENST00000696137.1,
ENST00000696152.1,
ENST00000696228.1 )
CXCR4 p.Ser342Ter (p.S342*) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 ) - Associated Disease
- WHIM syndrome
- Source Database
- DisGeNET
- Description
- We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas.
- Pubmed
- 24711662
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.449771907394891
- Year of publication
- 2014
Drugs