rs132630273
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
|
11167787 |
2001 |
rs132630273
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
rs132630273
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
rs132630273
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Molecular analysis of the first case identified a mutation in exon 2 of the gene coding for WASP, leading to a p.Thr45Met amino acid change and confirming the diagnosis of X-linked thrombocytopenia.
|
28641574 |
2017 |
rs132630273
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
|
10447259 |
1999 |
rs132630273
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
8528199 |
1995 |
rs782290433
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
|
8528199 |
1995 |
rs782290433
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
|
10447259 |
1999 |
rs782290433
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
rs782290433
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
rs782290433
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
|
11167787 |
2001 |
rs132630275
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
|
11167787 |
2001 |
rs132630275
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
8528199 |
1995 |
rs132630275
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
rs132630275
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
rs132630275
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
|
10447259 |
1999 |
rs132630276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
|
11877312 |
2002 |
rs132630276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
8528199 |
1995 |
rs132630276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
|
11167787 |
2001 |
rs132630276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
|
10447259 |
1999 |
rs132630276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
rs143885622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In total, three patients revealed low expression of WASP associated with a <i>WAS</i> gene c.1378 C>T p.Pro460Ser mutation, which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia.
|
29358862 |
2017 |
rs2737799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on six female members of the same family carrying the mutated WAS allele p.V332A, which is known to be associated with XLT.
|
23689198 |
2013 |
rs132630273
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs782290433
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
|
21185603 |
2011 |