RS753254213 COQ8A

Health Risk Chr 1:226983826
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What This Variant Does
"CLNSIG=5
Associated Conditions
Global developmental delay
Possible mitochondrial disorder - nuclear genes
Autosomal recessive ataxia due to ubiquinone deficiency
Global developmental delay
Possible mitochondrial disorder - nuclear genes
Autosomal recessive ataxia due to ubiquinone deficiency
Other Variants in COQ8A
rs119468004 rs119468005 rs119468006 rs387906298 rs606231138 rs606231139 rs119468008 rs387906299 rs35582308 rs137872711
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