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Variant (rsID / SNP)

rs11547480

COQ9

rs11547480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ9. Location: chromosome 16, position 57,486,793. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COQ9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:57486793
Cytoband
16q21
HGVS
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
Allele change
Missense_L108R

Associated conditions / phenotypes

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Public references

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