Variant (rsID / SNP)

rs119468004

rs119468004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,173,033. 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: 1:227173033
Cytoband: 1q42.13
HGVS: NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
Allele change: Missense_E551K

Associated conditions / phenotypes

Autosomal recessive ataxia due to ubiquinone deficiency|See cases|Abnormality of the nervous system

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.