rs1049509674
WT1;WT1-AS
Frasier Syndrome
0.010
GeneticVariation
BEFREE
analysis of the Wilms' tumour suppressor gene in a patient with Frasier syndrome by the polymerase chain reaction and direct sequencing detected a + 5G -->A transition at a position of the second alternative splice region of exon 9, important for predicting the risk of the occurrence of Wilms' tumour.
11954756
2002
rs1060501253
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
C
0.700
CausalMutation
CLINVAR
rs1188182005
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
0.010
GeneticVariation
BEFREE
analysis of the Wilms' tumour suppressor gene in a patient with Frasier syndrome by the polymerase chain reaction and direct sequencing detected a + 5G -->A transition at a position of the second alternative splice region of exon 9, important for predicting the risk of the occurrence of Wilms' tumour.
11954756
2002
rs121907900
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
rs121907906
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
rs121907909
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
9108089
1997
rs121907909
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
10571943
1999
rs121907909
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
21851196
2011
rs121907909
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
23515051
2013
rs1423753702
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
9108089
1997
rs1554939839
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
C
0.700
CausalMutation
CLINVAR
Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
15150775
2004
rs1554945232
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
TC
0.700
CausalMutation
CLINVAR
rs1554946500
WT1;WT1-AS
Frasier Syndrome
A
0.700
CausalMutation
CLINVAR
rs1554946600
WT1;WT1-AS
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
rs1565000973
WT1;WT1-AS
Frasier Syndrome
G
0.700
CausalMutation
CLINVAR
rs267602852
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
A
0.700
GeneticVariation
CLINVAR
rs28941779
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
G
0.700
CausalMutation
CLINVAR
rs587776575
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
rs587776576
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
Frasier syndrome: four new cases with unusual presentations.
23295293
2012
rs587776576
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
9499425
1998
rs587776576
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
25818337
2015
rs587776576
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
24856380
2014
rs587776576
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
28204945
2017
rs587776576
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
1302008
1992
rs587776576
×
Entrez Id:
7490
Gene Symbol:
WT1
WT1
Frasier Syndrome
T
0.700
CausalMutation
CLINVAR
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
23515051
2013