|
rs202128397
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp located in the 10th and 11th epidermal growth factor-like domains, respectively).
|
29473663 |
2018 |
|
rs202128397
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587776576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
|
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121907900
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs386833945
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs748106387
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs879255251
|
|
TGGCGCGGCCCCGGCCC |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
NPHS2 gene analysis showed R229Q polymorphism in six SRNS (30%), four SSNS (4.4%) and 13 controls (26%).
|
24519673 |
2014 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
|
24715228 |
2014 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful.
|
23800802 |
2013 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In this preliminary study, we showed that NPHS2 gene p.R229Q polymorphism does not present in Iranian-Azeri population with SRNS.
|
24072153 |
2013 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome.
|
22578956 |
2012 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Six additional cases with late childhood- and adult-onset SRNS were compound heterozygotes for p.R229Q and one pathogenic mutation, mostly p.A284V. p.R229Q was more frequent among SRNS cases relative to controls (odds ratio=2.65; P=0.02).
|
20947785 |
2011 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In steroid-resistant nephrotic syndrome (SRNS) Machuca et al. report that mutations of the recessive podocin gene cause adult-onset SRNS if the R229Q genetic variant occurs in a compound heterozygous state with another podocin mutation.
|
19282856 |
2009 |
|
rs61747728
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our study shows that compound heterozygosity for p.R229Q is associated with adult-onset steroid-resistant NS, mostly among patients of European and South American origin.
|
19145239 |
2009 |
|
rs760415536
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, four novel polymorphisms including - 257 T > C, - 266 G > A, - 293 G > C, and - 21 G > A found in the promoter region of TRPC6 gene that may be involved in SRNS in our cohort.
|
31529341 |
2019 |
|
rs1071630
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2).
|
29277510 |
2018 |
|
rs1129740
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2).
|
29277510 |
2018 |
|
rs1136759
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2).
|
29277510 |
2018 |
|
rs17878703
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2).
|
29277510 |
2018 |
|
rs200482683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS.
|
23242530 |
2013 |
|
rs753350907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The pathogenicity of the NPHS2 homozygous p.R229Q variant in steroid-resistant nephrotic syndrome (SRNS) is doubtful.
|
23800802 |
2013 |
|
rs1001703993
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome.
|
22578956 |
2012 |
|
rs74315344
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one adult patient, there were two polymorphisms, p.P20L and p.R229Q, in trans-heterozygous state, which could contribute to steroid-resistant nephrotic syndrome.
|
22578956 |
2012 |