|
rs5030868
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Male C563T hemizygotes suffer from G6PD deficiency and severe neonatal jaundice.
|
24460025 |
2014 |
|
rs5030868
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Remarkably, a previously unreported deficient variant, G6PD Orissa (44 Ala-->Gly), is responsible for most of the G6PD deficiency in tribal Indian populations but is not found in urban populations, where most of the G6PD deficiency is due to the G6PD Mediterranean (188 Ser-->Phe) variant.
|
8533762 |
1995 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our results suggest that c.202G>A is responsible for the majority of the observed prevalence of G6PD deficiency trait in Kenya, but also identify a novel role for c.376A>G as a genetic modifier which marks a common haplotype that augments the risk conferred to 202AG heterozygotes, suggesting that variation at both loci merits consideration in genetic association studies probing G6PD deficiency-associated clinical phenotypes.
|
25201310 |
2014 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.
|
25169987 |
2014 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We evaluated G6PD activity, oxidative stress levels and Trolox equivalent antioxidant capacity in individuals with the A-(202G>A) mutation for G6PD deficiency.
|
19937590 |
2009 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We compared the association between uncomplicated malaria incidence and G6PD deficiency in a cohort of 601 Ugandan children using two different diagnostic methods, enzyme activity and G6PD genotype (G202A, the predominant East African allele).
|
19789650 |
2009 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Molecular screening for glucose-6-phosphate (G6PD) mutations in two Jordanian populations revealed six different mutations and higher incidences of G6PD deficiency and G6PD A- (376A-->G + 202G-->A) mutation in Jordan Valley than in the Amman area.
|
16330444 |
2005 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Molecular studies showed that the G6PD deficiency was due a 202 G-->A mutation, the A- variant common in African ethnic groups.
|
14978696 |
2004 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Thus, our data indicate that G6PD A- with the 202 G-->A mutation is the most frequent G6PD deficiency in the population of southeastern Brazil.
|
9017974 |
1997 |
|
rs1050828
|
|
|
0.080 |
GeneticVariation |
BEFREE |
This could be because the 68 Val-->Met mutation happened to arise in an A gene in the first instance, or because the 68 Val-->Met mutation alone is not sufficient to cause G6PD deficiency.
|
1303173 |
1992 |
|
rs1050829
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Sanger sequencing was used to assess G6PD deficiency by detecting 202G>A (rs1050828) and 376A>G (rs1050829) single nucleotide polymorphisms.
|
30819192 |
2019 |
|
rs1050829
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A single patient with mutation (Asn126Asp) showed a 21% decrease in G6PD activity, two subjects showed G6PD deficiency without mutations, and one patient had a decreased level of G6PD mRNA and reduced enzyme levels.
|
30161219 |
2018 |
|
rs1050829
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Noteworthy is the detection of the G6PD(Val68Met) variant characterized by c.202G > A transition, G6PD(Asn126Asp) variant characterized by c.376A>G transition and G6PD(Asp181Val) variant characterized by c.542A>T transversion of the G6PD gene in 22.5 % of the sample, characteristic of the A(-(202)), A and Santamaria G6PDd variants, respectively.
|
27267757 |
2016 |
|
rs1050829
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The G6PD A- mutation (G202A and A376G) does not appear to have a role in G6PD deficiency in a Saudi population.
|
25169987 |
2014 |
|
rs1050829
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our results suggest that c.202G>A is responsible for the majority of the observed prevalence of G6PD deficiency trait in Kenya, but also identify a novel role for c.376A>G as a genetic modifier which marks a common haplotype that augments the risk conferred to 202AG heterozygotes, suggesting that variation at both loci merits consideration in genetic association studies probing G6PD deficiency-associated clinical phenotypes.
|
25201310 |
2014 |
|
rs1050829
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Molecular screening for glucose-6-phosphate (G6PD) mutations in two Jordanian populations revealed six different mutations and higher incidences of G6PD deficiency and G6PD A- (376A-->G + 202G-->A) mutation in Jordan Valley than in the Amman area.
|
16330444 |
2005 |
|
rs137852314
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study revealed high prevalence of co-inheritance of G6PD deficiency with HbAE in the Kachin ethnicity, and a potential interaction of the G6PD Mahidol 487G>A and HbAE in males leading to severe anemia.
|
28531196 |
2017 |
|
rs137852314
|
|
|
0.030 |
GeneticVariation |
BEFREE |
HEM (human epidermal melanocyte) cells and human melanoma cells with the wild-type G6PD gene (A375-WT), G6PD deficiency (A375-G6PD∆), G6PD cDNA overexpression (A375-G6PD∆-G6PD-WT), and mutant G6PD cDNA (A375-G6PD∆-G6PD-G487A) were subcutaneously injected into 5 groups of nude mice.
|
23693134 |
2013 |
|
rs137852314
|
|
|
0.030 |
GeneticVariation |
BEFREE |
There were two cases of G6PD deficiency carrying the double mutations of Viangchan (871G > A)-Mahidol (487G > A) and Viangchan (871G > A)-Union (1360C > T).
|
23965028 |
2013 |
|
rs137852327
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Three patients had missense mutations in G6PD (Val291Met, Asn126Asp, Asp194Glu), however, only one mutation (Val291Met) results in a severe G6PD deficiency.
|
30161219 |
2018 |
|
rs1050757
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In our Palestinian cohort of 67 [59 males (M) and 8 females (F)] G6PD-deficient children, previously hospitalized for acute hemolytic anemia due to favism, molecular sequencing of the G6PD gene revealed four cases (3M and 1F) that did not have any of the variants known to cause G6PD deficiency, but the 3' UTR c.*+357A>G (rs1050757) polymorphism in association with IVS 11 (c.1365-13T>C; rs2071429), and c.1311C>T (rs2230037).
|
28059001 |
2017 |
|
rs2230037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We now provide an additional evidence form Palestinian G6PD-deficient subjects for a possible role of 3' UTR c.*+357 A>G, c.1365-13T>C, and/or c.1311C>T polymorphism for G6PD deficiency, suggesting that not only a single variation in the exonic or exonic intronic boundaries, but also a haplotype of G6PD should considered as a cause for G6PD deficiency.
|
28059001 |
2017 |
|
rs1050757
|
|
|
0.020 |
GeneticVariation |
BEFREE |
It could be speculated that rs1050757 have a potential functional effect on the downregulation of mRNA and consequently G6PD deficiency either by affecting mRNA stability and translation or mirRNA regulation process.
|
23389243 |
2013 |
|
rs137852327
|
|
|
0.020 |
GeneticVariation |
BEFREE |
There were two cases of G6PD deficiency carrying the double mutations of Viangchan (871G > A)-Mahidol (487G > A) and Viangchan (871G > A)-Union (1360C > T).
|
23965028 |
2013 |
|
rs398123546
|
|
|
0.020 |
GeneticVariation |
BEFREE |
There were two cases of G6PD deficiency carrying the double mutations of Viangchan (871G > A)-Mahidol (487G > A) and Viangchan (871G > A)-Union (1360C > T).
|
23965028 |
2013 |