rs193922936
FMR1;FMR1-AS1
Fragile X Syndrome
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG
0.700
CausalMutation
CLINVAR
The fragile X syndromes.
7620122
1995
rs193922936
FMR1;FMR1-AS1
Fragile X Syndrome
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
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.860
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.860
GeneticVariation
UNIPROT
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
22797890
2012
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
A
0.860
CausalMutation
CLINVAR
rs1057518850
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Poor school performance
G
0.700
GeneticVariation
CLINVAR
rs1057518850
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Autistic behavior
G
0.700
GeneticVariation
CLINVAR
rs1557176576
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
TA
0.700
CausalMutation
CLINVAR
rs1569545382
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
A
0.700
CausalMutation
CLINVAR
rs1569545562
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
T
0.700
CausalMutation
CLINVAR
rs200163413
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.700
GeneticVariation
UNIPROT
rs886041088
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Poor school performance
G
0.700
CausalMutation
CLINVAR
rs886041089
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Poor school performance
A
0.700
CausalMutation
CLINVAR
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Liver diseases
0.010
GeneticVariation
BEFREE
This patient harbors an isoleucine to asparagine mutation (I304N ) in the second FMRP KH-type RNA-binding domain, however, this single case report was complicated because the patient harbored a superimposed familial liver disease .
20011099
2009
rs182830086
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
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