|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
This suggests that p.D313Y causes a potentially treatable condition resembling an early stage of Fabry disease.
|
30830284 |
2019 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
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 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype.
|
29037082 |
2017 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
The mutation p.D313Y is associated with organ manifestation in Fabry disease.
|
28276057 |
2017 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
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 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Eight D313Y carriers were presenting signs of FD despite not fulfilling the criteria of the disease, two had no FD signs and two others were apparently healthy.
|
28988177 |
2017 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.
|
27059467 |
2016 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
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 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
|
16980809 |
2006 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
|
14635108 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
|
14680977 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
12735292 |
2002 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
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 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |