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FRAXA
Chr XXLDXLRX-linkedfragile site, folic acid type, rare, fra(X)(q27.3) A
Also known as: FMR1
The FRAXA locus contains a CGG trinucleotide repeat in the 5' regulatory region of the FMR1 gene that encodes fragile X messenger ribonucleoprotein 1. Expansions of this repeat cause fragile X syndrome (the most common inherited cause of intellectual disability and autism spectrum disorder) when fully expanded beyond 200 repeats, and fragile X tremor/ataxia syndrome or premature ovarian insufficiency with intermediate expansions of 55-200 repeats. The condition follows X-linked inheritance with reduced penetrance in females due to X-inactivation, and repeat expansions show a bias toward further expansion during maternal transmission.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FRAXA?content-type=application/json&expand=1
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
FRAXA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Study of the Value of Trio Exome Sequencing in the Etiological Assessment of Specific Non-syndromic Language and Learning Disorders
RECRUITINGGroup CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
RECRUITINGInvestigation of Copy Number Variations and Genetic Variants in POI
RECRUITINGOptical Imaging in X-linked Disorders.
RECRUITINGDevelopment of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
RECRUITINGAssessment of Ovarian Reserve in Patients With Fragile X Premutation
RECRUITINGEffect of CANnabidiol on Anxiety and GABAergic Function in Individuals with Fragile-X Syndrome
NOT YET RECRUITINGAlpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
RECRUITINGProbiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome
RECRUITINGExternal Resources
Links to major genomics databases and tools