FRA10A
biological-regionfragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2)
Gene summary
This biological region overlaps the FRA10A associated CGG repeat 1 (FRA10AC1) gene on the q arm of chromosome 10. This region is a folate-sensitive fragile site and contains a CGG/CCG trinucleotide repeat. The repeat is found within the 5' untranslated region of some transcript variants, but is also intronic to a transcript variant. Allelic variation occurs in this region, with repeat sizes of about n=8-14, typically observed. Expansions of the repeat to copy numbers exceeding 200 have been observed, and are associated with chromosome fragility at this site. Repeat expansions are associated with CpG hypermethylation and reduced expression of the FRA10AC1 gene product. [provided by RefSeq, Dec 2016]
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 FRA10A 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. | ||||