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Variant (rsID / SNP)

rs121918232

COQ2

rs121918232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ2. Location: chromosome 4, position 84,194,658. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COQ2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:84194658
Cytoband
4q21.23
HGVS
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
Allele change
Missense_N228S

Associated conditions / phenotypes

Coenzyme Q10 deficiency, primary, 1|Coenzyme Q10 deficiency|Nephrotic syndrome

Public references

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