FMR1 Chromosome X
Fragile X messenger ribonucleoprotein 1
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What This Gene Does
The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
Associated Conditions (8)
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Premature ovarian failure 1
Inborn genetic diseases
See cases
Intellectual disability
Autistic behavior
Nonpapillary renal cell carcinoma
Key Variants
RS1485492099
Conflicting classifications of pathogenicity
Health Risk
RS193922936
Conflicting classifications of pathogenicity
Fragile X syndrome, Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome
Health Risk
RS2043190584
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2521479452
Conflicting classifications of pathogenicity
Fragile X syndrome, Fragile X syndrome
Health Risk
RS782325167
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS1057518038
Likely pathogenic
Health Risk
RS1057518850
Likely pathogenic
Intellectual disability, Autistic behavior, Nonpapillary renal cell carcinoma
Health Risk
RS1569545763
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2043190772
Likely pathogenic
Health Risk
RS2043856428
Likely pathogenic
Fragile X syndrome, Fragile X syndrome
Health Risk
RS2124521655
Likely pathogenic
See cases, See cases
Health Risk
RS2521451788
Likely pathogenic
Fragile X syndrome, Fragile X syndrome
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1485492099 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS193922936 | Health Risk | Conflicting classifications of pathogenicity | Fragile X syndrome, Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome |
| RS2043190584 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2521479452 | Health Risk | Conflicting classifications of pathogenicity | Fragile X syndrome, Fragile X syndrome |
| RS782325167 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS1057518038 | Health Risk | Likely pathogenic | — |
| RS1057518850 | Health Risk | Likely pathogenic | Intellectual disability, Autistic behavior, Nonpapillary renal cell carcinoma |
| RS1569545763 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2043190772 | Health Risk | Likely pathogenic | — |
| RS2043856428 | Health Risk | Likely pathogenic | Fragile X syndrome, Fragile X syndrome |
| RS2124521655 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2521451788 | Health Risk | Likely pathogenic | Fragile X syndrome, Fragile X syndrome |
| RS2521504046 | Health Risk | Likely pathogenic | Fragile X-associated tremor/ataxia syndrome, Fragile X-associated tremor/ataxia syndrome |
| RS782367211 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS121434622 | Health Risk | Pathogenic | Fragile X syndrome, Fragile X syndrome |
| RS1557176576 | Health Risk | Pathogenic | Fragile X syndrome, Fragile X syndrome |
| RS1569545382 | Health Risk | Pathogenic | Fragile X syndrome, Fragile X syndrome |
| RS1569545562 | Health Risk | Pathogenic | Fragile X syndrome, Fragile X syndrome |
| RS2521361687 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2521479850 | Health Risk | Pathogenic | Fragile X syndrome, Fragile X syndrome |
| RS886041088 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS886041089 | Health Risk | Pathogenic | Intellectual disability, Nonpapillary renal cell carcinoma, Intellectual disability |