FRA16A
biological-regionfragile site, folic acid type, rare, fra(16)(p13.11)
Gene summary
This biological region is found near the 5' end of the xylosyltransferase 1 gene on the p arm of chromosome 16. This region is a rare folate-sensitive fragile site and contains CCG/CGG trinucleotide repeats. This is a highly polymorphic region, and expansions of the repeat result in chromosome fragility at this site. Studies suggest that this region contains a complex repeat structure and there are multiple alleles with varying repeat structures. In some populations, the predominant allele has a structure of (CCG)6__(CCT)2(CCG)6-9(CTG)(CCG)6-11(CCTCCA), which is the allele represented here. Repeat expansion may result in meiotic and mitotic instability. Hypermethylation of repeat expansions has been observed. The sequence represented on the reference genome lacks the majority of the CCG repeats, lacks the CCT repeats and the CCTCCA sequence. [provided by RefSeq, Mar 2020]
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 FRA16A 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. | ||||