rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
These two patients with the E66Q mutation were excluded because of the possibility of polymorphism; the prevalence of Fabry disease in the HD population was finally calculated to be 0.11%.
|
22563919 |
2012 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The p.E66Q variant of the α-galactosidase A gene (GLA) is frequently found during screening for Fabry disease in dialysis patients in Japan.
|
24718812 |
2015 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease.
|
28275245 |
2017 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
On the other hand, unexpectedly high frequencies of male subjects having the c.196G>C nucleotide change (p.E66Q) showing low α-GLA activity have been reported on Japanese and Korean screening for Fabry disease.
|
22695894 |
2012 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease.
|
23724928 |
2014 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In terms of genetic abnormalities, the E66Q mutation has recently become a topic of discussion, and although doubts have been expressed over whether or not it is the gene responsible for Fabry disease, there is still a strong possibility that it is a functional genetic polymorphism.
|
24189976 |
2014 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our results directly implicated the GLA mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree.
|
26456105 |
2016 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
An electron microscopic examination did not reveal any pathological changes specific to Fabry disease in biopsied skin tissues from a male subject with the E66Q enzyme.
|
22305854 |
2012 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.
|
22874111 |
2012 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation.
|
27160240 |
2016 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
20505683 |
2010 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.
|
1315715 |
1992 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
The genetic analysis did not identify a causative mutation responsible for classic Fabry disease in any of the patients, but 2 patients (.4%) carried the p.E66Q in GLA.
|
30201457 |
2018 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
1846223 |
1991 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
|
7759078 |
1995 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |