Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434622
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

dbSNP: rs121434622
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

dbSNP: rs121434622
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

dbSNP: rs121434622
rs121434622
0.860 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013

dbSNP: rs121434622
rs121434622
0.860 GeneticVariation UNIPROT Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. 22797890

2012

dbSNP: rs121434622
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

dbSNP: rs121434622
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

dbSNP: rs121434622
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

dbSNP: rs121434622
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

dbSNP: rs121434622
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

dbSNP: rs121434622
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

dbSNP: rs121434622
rs121434622
A 0.860 CausalMutation CLINVAR

dbSNP: rs193922936
rs193922936
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR The fragile X syndromes. 7620122

1995

dbSNP: rs193922936
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

dbSNP: rs1557176576
rs1557176576
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1569545382
rs1569545382
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569545562
rs1569545562
T 0.700 CausalMutation CLINVAR

dbSNP: rs200163413
rs200163413
0.700 GeneticVariation UNIPROT

dbSNP: rs182830086
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