rs121434622, FMR1

N. diseases: 2
Disease: Fragile X Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: Fragile X Syndrome
0.860 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: 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
Fragile X Syndrome
CUI: C0016667
Disease: Fragile X Syndrome
0.860 CausalMutation CLINVAR