RS119468004 COQ8A

Health Risk Chr 1:226985331 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Autosomal recessive ataxia due to ubiquinone deficiency
See cases
Abnormality of the nervous system
Autosomal recessive ataxia due to ubiquinone deficiency
See cases
Abnormality of the nervous system
Population Frequencies
gnomAD ALL
100%
Other Variants in COQ8A
rs119468005 rs119468006 rs387906298 rs606231138 rs606231139 rs119468008 rs387906299 rs35582308 rs137872711 rs1553281318
Ask Dr. Hemsworth about this variant