|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.
|
27059467 |
2016 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
|
14680977 |
2003 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
|
14635108 |
2003 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
A single patient had a possible pathogenic variant, R118C, in the GLA gene, but clinical investigation showed no firm signs of FD.
|
30246259 |
2019 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
This is the first report that shows a link between FD renal Gb3 deposits and c.352C>T/p.Arg118Cys variant, supporting pathogenicity of a variant considered until now with uncertain pathogenicity.
|
31566927 |
2019 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease.
|
25468652 |
2015 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
No classic pathogenic FD mutations were found; one patient had a missense mutation (R118C), associated with late-onset FD.
|
26305465 |
2015 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
This case also supports the idea that the missense mutation R118C is indeed a true pathogenic mutation of Anderson-Fabry disease.
|
24661928 |
2014 |
|
rs104894846
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The white blood cell α-gal activity was very low, and genetic analysis revealed a GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD.
|
31847900 |
2019 |
|
rs886041315
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).
|
30635085 |
2019 |
|
rs869312386
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
|
30130681 |
2018 |
|
rs398123226
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation.
|
28798024 |
2017 |
|
rs869312407
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To evaluate the procedure, genomic DNAs were blindly tested for known GLA mutations (c.658C>T, c. 679C>T, c.772G>A, c.796G>A, or c.718-719delAA) in three affected males and two obligate heterozygotes with Fabry disease, a G6PC mutation (c.247C>T) in a patient homozygous for that lesion, and 10 healthy control Turkish individuals.
|
24341606 |
2014 |
|
rs886044845
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A typical mutation for FD (c.424T>C, [C142R]) was detected in one patient.
|
20860754 |
2011 |
|
rs727503949
|
|
|
0.710 |
GeneticVariation |
BEFREE |
This is the first detailed report of family members with Fabry disease due to a nonsense mutation (R220X) in the alpha-Gal A gene.
|
15077869 |
2004 |
|
rs104894851
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain.
|
12694230 |
2003 |
|
rs28935485
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case.
|
1315715 |
1992 |
|
rs869312265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study reveals the pathogenesis of splicing mutation c.801 + 1G > A to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD.
|
30853972 |
2019 |
|
rs868949479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%.
|
27576502 |
2016 |
|
rs869312346
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%.
|
27576502 |
2016 |
|
rs869312255
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD.
|
25977923 |
2015 |
|
rs869312400
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).
|
26269958 |
2015 |
|
rs869312402
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).
|
26269958 |
2015 |
|
rs869312304
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One man had a novel mutation, GLA p.Ala5Glu (c.44C>A), presenting as classical FD.
|
22805550 |
2013 |