rs132630273
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517845
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs132630269
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs132630270
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1557006354
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1557007123
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
|
7579347 |
1995 |
rs132630273
|
|
|
0.810 |
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 |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
rs132630275
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
rs132630276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
|
7795648 |
1995 |
rs782290433
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
|
8528198 |
1995 |
rs1557006239
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
|
8528198 |
1995 |
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
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
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 |
rs132630275
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
8528199 |
1995 |
rs132630276
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
8528199 |
1995 |
rs782290433
|
|
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 |
rs1557006239
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
|
8682510 |
1996 |
rs1569494025
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.
|
8931701 |
1996 |
rs782290433
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
|
9326235 |
1997 |
rs132630268
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.
|
9326235 |
1997 |
rs132630268
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.
|
10202051 |
1999 |
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 |
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 |