|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.
|
31331973 |
2019 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
|
26545377 |
2016 |
|
rs193922136
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
|
25541662 |
2014 |
|
rs193922136
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
|
25541662 |
2014 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype.
|
23538518 |
2013 |
|
rs193922136
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
|
19575287 |
2009 |
|
rs193922136
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
"Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants."
|
17351759 |
2007 |
|
rs193922136
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.
|
10484640 |
1999 |
|
rs193922136
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.
|
10484640 |
1999 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
|
9746782 |
1998 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t-->a).
|
9697710 |
1998 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
|
9150729 |
1997 |
|
rs193922136
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
|
8889581 |
1996 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome.
|
8889581 |
1996 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
|
8550833 |
1996 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM.
|
7532185 |
1995 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
|
7717401 |
1995 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
|
7679206 |
1993 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
|
7679801 |
1993 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome.
|
7678782 |
1993 |
|
rs193922136
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.
|
8094231 |
1993 |
|
rs104894769
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.
|
31331973 |
2019 |
|
rs104894769
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome.
|
29525420 |
2019 |
|
rs104894769
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
|
26545377 |
2016 |
|
rs104894769
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
|
9746782 |
1998 |