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 )
Associated Disease
WHIM syndrome 1
Source Database
ClinVar
Description
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) AND WHIM syndrome 1
ClinVar Allele ID
29060
ClinVar RefSeq Alternation Syntax
NM_001348056.2:c.1229_1230del
ClinVar RefSeq Alternation Syntax
NM_001008540.2:c.1028_1029del
ClinVar RefSeq Alternation Syntax
NM_001348059.2:c.1115_1116del
ClinVar RefSeq Alternation Syntax
NM_001348060.2:c.971_972del
ClinVar RefSeq Alternation Syntax
NM_003467.3:c.1016_1017del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2003-05-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001801238
ClinVar Disease
WHIM syndrome 1
Observed Origin Sample
germline
Pubmed
12692554
Drugs