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rs193922135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922135(C;T)
Make rs193922135(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136648279
GeneCD40LG
is asnp
is mentioned by
dbSNPrs193922135
ebirs193922135
HLIrs193922135
Exacrs193922135
Varsomers193922135
Maprs193922135
PheGenIrs193922135
hapmaprs193922135
1000 genomesrs193922135
hgdprs193922135
ensemblrs193922135
gopubmedrs193922135
geneviewrs193922135
scholarrs193922135
googlers193922135
pharmgkbrs193922135
gwascentralrs193922135
openSNPrs193922135
23andMers193922135
23andMe allrs193922135
SNP Nexus

SNPshotrs193922135
SNPdbers193922135
MSV3drs193922135
GWAS Ctlgrs193922135
Max Magnitude0
ClinVar
Risk rs193922135(T;T)
Alt rs193922135(T;T)
Reference rs193922135(C;C)
Significance Pathogenic
Disease Immunodeficiency with hyper IgM type 1
Variation info
Gene CD40LG
CLNDBN Immunodeficiency with hyper IgM type 1
Reversed 0
HGVS NC_000023.10:g.135730438C>T
CLNSRC ClinVar
CLNACC RCV000029464.1,


[PMID 16169277] Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation.


[PMID 17351759] Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.


[PMID 18955577] Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene.