rs772590420
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined three DDS associated mutations in ZF2 of human WT1 where the normal glutamine at position 369 is replaced by arginine (Q369R), lysine (Q369K) or histidine (Q369H).
|
27596598 |
2016 |
rs1414739809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic analysis revealed a de novo heterozygous missense mutation c.1186G>A (p.Asp396Asn) in the WT1 gene, confirming the diagnosis of DDS.
|
24379226 |
2014 |
rs760336723
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome.
|
15509792 |
2004 |
rs1564969626
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
|
27241786 |
2016 |
rs121907909
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
rs121907909
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
|
21851196 |
2011 |
rs1554939839
|
|
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 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?
|
10762296 |
2000 |
rs121907909
|
|
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 |
rs587776576
|
|
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 |
rs121907909
|
|
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 |
rs1423753702
|
|
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 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
|
9398852 |
1997 |
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
rs1060501253
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907901
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907902
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907903
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907905
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907906
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121907907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554945232
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554946500
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|