Variant (rsID / SNP)

rs6535454

rs6535454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ2. Location: chromosome 4, position 84,191,031. Clinical significance in the table: Benign.

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Reference-table entries

COQ2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:84191031
Cytoband: 4q21.23
HGVS: NM_001358921.2(COQ2):c.744T>C (p.Asp248=)
Allele change: Synonymous_D298D

Associated conditions / phenotypes

Coenzyme Q10 deficiency, primary, 1

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.