FMR1, FMRP translational regulator 1, 2332

N. diseases: 29; N. variants: 9
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434622
rs121434622
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
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
dbSNP: rs121434622
rs121434622
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
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
dbSNP: rs121434622
rs121434622
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
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
dbSNP: rs121434622
rs121434622
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
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
dbSNP: rs121434622
rs121434622
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
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
dbSNP: rs121434622
rs121434622
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease:
Fragile X Syndrome
A 0.860 CausalMutation CLINVAR
dbSNP: rs193922936
rs193922936
Entrez Id: 2332;100126270
Gene Symbol: FMR1;FMR1-AS1
FMR1;FMR1-AS1
CUI: C0016667
Disease:
Fragile X Syndrome
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR The fragile X syndromes. 7620122 1995
dbSNP: rs193922936
rs193922936
Entrez Id: 2332;100126270
Gene Symbol: FMR1;FMR1-AS1
FMR1;FMR1-AS1
CUI: C0016667
Disease:
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
dbSNP: rs1057518850
rs1057518850
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C1843367
Disease:
Poor school performance
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518850
rs1057518850
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0856975
Disease:
Autistic behavior
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1557176576
rs1557176576
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease:
Fragile X Syndrome
TA 0.700 CausalMutation CLINVAR
dbSNP: rs1569545382
rs1569545382
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease:
Fragile X Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569545562
rs1569545562
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease:
Fragile X Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs200163413
rs200163413
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0016667
Disease:
Fragile X Syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs886041088
rs886041088
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C1843367
Disease:
Poor school performance
G 0.700 CausalMutation CLINVAR
dbSNP: rs886041089
rs886041089
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C1843367
Disease:
Poor school performance
A 0.700 CausalMutation CLINVAR