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Variant (rsID / SNP)

rs376462712

COQ8A

rs376462712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,165,191. 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
1:227165191
Cytoband
1q42.13
HGVS
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
Allele change
Missense_A233T

Associated conditions / phenotypes

Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type|Autosomal recessive cerebellar ataxia

Public references

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