|
rs121907892
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia.
|
26821810 |
2016 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
We describe a 13-year-old boy with renal hypouricemia type 1 (serum uric acid, 0.9 mg/dL) with a homozygous W258X mutation in the SLC22A12 gene, presenting with EIAKI and PRES.
|
23525542 |
2013 |
|
rs121907892
|
|
|
0.750 |
GeneticVariation |
BEFREE |
A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia.
|
21935282 |
2011 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.
|
21366895 |
2011 |
|
rs121907892
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We also identified a common nonsense mutation, W258X, responsible for renal hypouricemia.
|
20714133 |
2010 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
|
19019168 |
2008 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.
|
18492088 |
2008 |
|
rs121907892
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia.
|
18492088 |
2008 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.
|
16703794 |
2006 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.
|
15912381 |
2005 |
|
rs121907892
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients.
|
15054642 |
2004 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
The present study demonstrates that homozygous W258X mutation is the predominant genetic cause of idiopathic renal hypouricemia in Japanese patients.
|
15054642 |
2004 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Two male siblings with hereditary renal hypouricemia and exercise-induced ARF.
|
14655203 |
2003 |
|
rs121907892
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Molecular identification of a renal urate anion exchanger that regulates blood urate levels.
|
12024214 |
2002 |