FRA10AC1 Chromosome 10
FRA10A associated CGG repeat 1
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What This Gene Does
The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Spliceosomal C complex
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000148690
Associated Conditions (5)
Neurodevelopmental disorder with growth retardation
dysmorphic facies
and corpus callosum abnormalities
See cases
Acute myeloid leukemia
Key Variants
RS1427003828
Pathogenic
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Health Risk
RS199549545
Pathogenic
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Health Risk
RS2059270260
Pathogenic
Health Risk
RS2492662538
Pathogenic
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Health Risk
RS764976937
Pathogenic
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Health Risk
RS2492694754
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Health Risk
RS555127846
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1427003828 | Health Risk | Pathogenic | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities |
| RS199549545 | Health Risk | Pathogenic | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities |
| RS2059270260 | Health Risk | Pathogenic | — |
| RS2492662538 | Health Risk | Pathogenic | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities |
| RS764976937 | Health Risk | Pathogenic | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities |
| RS2492694754 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities |
| RS555127846 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities |