Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 p.Arg338Ter (p.R338*)
(
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
- A nonsense mutation (C-->T) truncating the CXC chemokine receptor 4 (CXCR4) C-terminal cytoplasmic tail domain occurred at nucleotide position 1000(R334X) of the CXCR4 gene in one allele of the patient was identified, and the person was diagnosed as having WHIM syndrome.
- Pubmed
- 19476565
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.449771907394891
- Year of publication
- 2009
Drugs