|
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
|
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
|
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
|
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
|
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
|
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
|
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 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
|
11295840 |
2001 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |