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Variant (rsID / SNP)

rs137872711

COQ8A

rs137872711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,152,781. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COQ8AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:227152781
Cytoband
1q42.13
HGVS
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
Allele change
Synonymous_A86A

Associated conditions / phenotypes

Autosomal recessive ataxia due to ubiquinone deficiency|Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.