FRAXA
biological-regionfragile site, folic acid type, rare, fra(X)(q27.3) A
Gene summary
This biological region is found near the 5' regulatory region of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene on the q arm of chromosome X, and contains a CGG trinucleotide repeat with AGG repeat interruptions. This region is highly polymorphic, and alleles with varying numbers of repeats have been observed. Alleles with repeat sizes of 5-44 tend to show mitotic and meiotic stability, while those with about 45-54 repeats are at a higher risk for instability, but show no phenotype. Individuals with alleles that are expanded to 55-200 repeats are at risk for a number of disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated premature ovarian insufficiency (FXPOI), and adult-onset neurodegenerative disorder. These alleles tend to be unstable upon transmission, with a bias for expansion during maternal transmission. Alleles containing more than 200 CGG repeats are considered full mutation alleles, and are associated with fragile X syndrome. These alleles display hypermethylation of the FMR1 promoter region. It has been shown that the presence of AGG interruptions reduce the risk of repeat instability. [provided by RefSeq, Apr 2022]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FRAXA variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||