Variant (rsID / SNP)

rs121918231

rs121918231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ2. Location: chromosome 4, position 84,194,751. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COQ2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:84194751
Cytoband: 4q21.23
HGVS: NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
Allele change: Missense_R197H

Associated conditions / phenotypes

Coenzyme Q10 deficiency, primary, 1|Coenzyme Q10 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.