|
rs104894845
|
|
Fabry Disease
|
|
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
|
|
Fabry Disease
|
|
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
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
|
29982630 |
2018 |
|
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
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
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
|
rs104894845
|
|
Fabry Disease
|
|
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 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs104894845
|
|
Fabry Disease
|
|
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
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
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
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs104894845
|
|
Fabry Disease
|
|
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
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned.
|
24380807 |
2014 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
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 |
|
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers.
|
23219219 |
2013 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
|
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
In case of the p.Ala143Thr mutation, and possibly also other mutations associated with an attenuated phenotype, diagnostic tools such as biopsy and imaging should critically evaluate the relation of end-organ failure with Fabry disease, as this has important consequences for enzyme replacement therapy.
|
23430526 |
2013 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
rs104894845
|
|
Fabry Disease
|
|
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
|
|
Fabry Disease
|
G |
0.860 |
GeneticVariation
|
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
|
17804462 |
2008 |
|
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
|
18596132 |
2008 |
|
rs104894845
|
|
Fabry Disease
|
T |
0.860 |
GeneticVariation
|
CLINVAR |
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
|
18154965 |
2007 |
|
rs104894845
|
|
Fabry Disease
|
G |
0.860 |
GeneticVariation
|
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |