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rs193922136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922136(C;T)
Make rs193922136(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136659390
GeneCD40LG
is asnp
is mentioned by
dbSNPrs193922136
ebirs193922136
HLIrs193922136
Exacrs193922136
Varsomers193922136
Maprs193922136
PheGenIrs193922136
hapmaprs193922136
1000 genomesrs193922136
hgdprs193922136
ensemblrs193922136
gopubmedrs193922136
geneviewrs193922136
scholarrs193922136
googlers193922136
pharmgkbrs193922136
gwascentralrs193922136
openSNPrs193922136
23andMers193922136
23andMe allrs193922136
SNP Nexus

SNPshotrs193922136
SNPdbers193922136
MSV3drs193922136
GWAS Ctlgrs193922136
Max Magnitude0
ClinVar
Risk rs193922136(T;T)
Alt rs193922136(T;T)
Reference rs193922136(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.135741549C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029466.1,


[PMID 17351] Assembly of multisubunit respiratory proteins.


[PMID 11037300] Primary immunodeficiency mutation databases.


[PMID 16509032OA-icon.png] Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome.


[PMID 17307885] The structural basis of hyper IgM deficiency - CD40L mutations.


[PMID 18051214] Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital.


[PMID 19575287] Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.