|
rs121434622
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
|
25227148 |
2015 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
BEFREE |
In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome.
|
24448548 |
2014 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
|
23765048 |
2013 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
|
22797890 |
2012 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
|
21540884 |
2011 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
BEFREE |
To address these issues, we have generated a new Fragile X Syndrome mouse model in which the endogenous Fmr1 gene harbors the I304N mutation.
|
20011099 |
2009 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
BEFREE |
We propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome.
|
18664458 |
2008 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
BEFREE |
We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation.
|
15805463 |
2005 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
BEFREE |
However, a single missense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome.
|
15670167 |
2005 |
|
rs121434622
|
|
|
0.860 |
GeneticVariation |
BEFREE |
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association.
|
9659908 |
1997 |
|
rs121434622
|
|
A |
0.860 |
CausalMutation |
CLINVAR |
|
|
|
|
rs2197706
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Common-variant associations with fragile X syndrome.
|
30531935 |
2019 |
|
rs193922936
|
|
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
0.700 |
CausalMutation |
CLINVAR |
The fragile X syndromes.
|
7620122 |
1995 |
|
rs193922936
|
|
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG |
0.700 |
CausalMutation |
CLINVAR |
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
|
1710175 |
1991 |
|
rs1557176576
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1569545382
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1569545562
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs200163413
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs6265
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS.
|
21890420 |
2011 |
|
rs759834365
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS.
|
21890420 |
2011 |
|
rs6265
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome.
|
19394799 |
2009 |
|
rs759834365
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome.
|
19394799 |
2009 |
|
rs182830086
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To test this hypothesis in vivo, we employed neuronally targeted expression of three human FMR1 transgenes, including wild-type (hFMR1), dephosphomimetic (S500A-hFMR1) and phosphomimetic (S500D-hFMR1), in the Drosophila FXS disease model to investigate phosphorylation requirements.
|
22080836 |
2012 |
|
rs7209436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Results indicate a statistically significant interaction between CRHR1 genotype and the status of raising a child with FXS to predict social anxiety symptoms reported on the SPAI (rs7209436, P = 0.0001).
|
22573456 |
2012 |