Variant (rsID / SNP)
rs119468005
rs119468005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,153,420. Clinical significance in the table: Pathogenic.
Reference-table entries
COQ8APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:227153420
- Cytoband
- 1q42.13
- HGVS
- NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
- Allele change
- Missense_R213W
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.