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Variant (rsID / SNP)

rs145034527

COQ8A

rs145034527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,169,808. 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
1:227169808
Cytoband
1q42.13
HGVS
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
Allele change
Missense_R271C

Associated conditions / phenotypes

Autosomal recessive cerebellar ataxia|Autosomal recessive ataxia due to ubiquinone deficiency|See cases

Public references

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