Variant (rsID / SNP)

rs201908721

rs201908721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,170,420. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COQ8APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:227170420
Cytoband: 1q42.13
HGVS: NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
Allele change: Missense_R299W

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.