rs104894845
|
|
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
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
|
9100224 |
1997 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
|
16595074 |
2006 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Fabry disease: 20 novel GLA mutations in 35 families.
|
11668641 |
2001 |
rs104894845
|
|
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
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
|
11889412 |
2002 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
rs104894845
|
|
G |
0.860 |
CausalMutation |
CLINVAR |
|
|
|
rs104894845
|
|
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
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers.
|
23219219 |
2013 |
rs104894845
|
|
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
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
|
18154965 |
2007 |
rs104894845
|
|
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
|
|
T |
0.860 |
CausalMutation |
CLINVAR |
|
|
|
rs104894845
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
|
7531540 |
1994 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
|
18596132 |
2008 |
rs104894845
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
rs104894845
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
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
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
|
15091117 |
2004 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members.
|
18849176 |
2008 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
|
15091117 |
2004 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
|
11914245 |
2002 |