|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients.
|
29867742 |
2018 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
rs104894845
|
|
|
0.860 |
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 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs104894845
|
|
|
0.860 |
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 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%).
|
20007919 |
2010 |
|
rs104894845
|
|
|
0.860 |
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 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations.
|
27142856 |
2016 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
12735292 |
2002 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.
|
16533976 |
2006 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs104894845
|
|
|
0.860 |
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 |