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FRA11B
Chr 11fragile site, folic acid type, rare, fra(11)(q23.3)
This biological region is known as FRA11B, and is found within the 5' untranslated region of the Cbl proto-oncogene (CBL) gene on the q arm of chromosome 11, and contains a CGG/CCG trinucleotide repeat. Somatic variability at this locus has been observed, and expansions of this repeat cause fragility at this folate-sensitive fragile site. Expansions resulting in repeats with a copy number of up to 800 have been observed. Experiments suggest that expansion of the trinucleotide repeat may cause hypermethylation of the DNA in this region. Chromosomal breakpoints in Jacobsen syndrome deletions have been mapped close to this region. [provided by RefSeq, Dec 2016]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FRA11B?content-type=application/json
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FRA11B · protein map & ClinVar variants
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External Resources
Links to major genomics databases and tools
Clinical Trials
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