rs132630273
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
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
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.810
GeneticVariation
UNIPROT
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
11877312
2002
rs132630273
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.810
GeneticVariation
UNIPROT
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
11167787
2001
rs132630274
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
Neutropenia, Severe Congenital, X-Linked
0.810
GeneticVariation
BEFREE
Here we describe a new disease, X-linked severe congenital neutropenia (XLN), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD).
11242115
2001
rs132630274
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
Neutropenia, Severe Congenital, X-Linked
0.810
GeneticVariation
UNIPROT
Here we describe a new disease, X-linked severe congenital neutropenia (XLN ), caused by a novel L270P mutation in the region of WAS encoding the conserved GTPase binding domain (GBD).
11242115
2001
rs132630273
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
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
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.810
GeneticVariation
UNIPROT
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
7795648
1995
rs132630273
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.810
GeneticVariation
UNIPROT
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
8528199
1995
rs132630273
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
T
0.810
CausalMutation
CLINVAR
rs132630274
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
Neutropenia, Severe Congenital, X-Linked
C
0.810
CausalMutation
CLINVAR
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Defective thymic output in WAS patients is associated with abnormal actin organization.
28931895
2017
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.
26261240
2015
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
21185603
2011
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Herein we report 2 siblings with chronic thrombocytopenia that were diagnosed with XLT based on a missense mutation in the WASP gene (223G>A , Val75Met ).
27264129
2011
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
20173115
2010
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
19817875
2009
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Clinical course of patients with WASP gene mutations.
12969986
2004
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
15284122
2004
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
11793485
2002
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.800
GeneticVariation
UNIPROT
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
11877312
2002
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
0.800
GeneticVariation
UNIPROT
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
11167787
2001
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
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
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
9326235
1997
rs782290433
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
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
×
Entrez Id:
7454
Gene Symbol:
WAS
WAS
THROMBOCYTOPENIA 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
8595430
1995