|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
|
1315715 |
1992 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
|
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 |
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 point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
|
2152885 |
1990 |
|
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
|
UNIPROT |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
|
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 |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
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
|
UNIPROT |
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
12735292 |
2002 |
|
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 |
The mutation p.D313Y is associated with organ manifestation in Fabry disease.
|
28276057 |
2017 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
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 |
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 |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
|
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
|
UNIPROT |
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
|
7759078 |
1995 |
|
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 |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |