Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 p.Ser343CysfsTer4 (p.S343Cfs*4)
(
ENST00000241393.4,
ENST00000409817.1,
ENST00000466288.1,
ENST00000696136.1,
ENST00000696137.1,
ENST00000696152.1,
ENST00000696228.1 )
CXCR4 p.Ser343CysfsTer4 (p.S343Cfs*4) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 )
CXCR4 p.Glu347Ter (p.E347*) ( 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 )
CXCR4 p.Arg338Ter (p.R338*) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 )
CXCR4 p.Glu347Ter (p.E347*) ( 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 )
CXCR4 p.Arg338Ter (p.R338*) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 ) - Associated Disease
- WHIM syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.449771907394891
- Year of publication
- NA
Drugs