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Variant (rsID / SNP)

rs144147839

COQ8A

rs144147839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,171,824. 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
1:227171824
Cytoband
1q42.13
HGVS
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
Allele change
Missense_Y429C

Associated conditions / phenotypes

Autosomal recessive ataxia due to ubiquinone deficiency

Public references

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