Variant (rsID / SNP)

rs119468009

rs119468009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,173,027. Clinical significance in the table: Pathogenic.

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Reference-table entries

COQ8APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:227173027
Cytoband: 1q42.13
HGVS: NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
Allele change: Missense_G549S

Associated conditions / phenotypes

Autosomal recessive ataxia due to ubiquinone deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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