Variant (rsID / SNP)

rs78846023

rs78846023 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ9. Location: chromosome 16, position 57,492,176. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COQ9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:57492176
Cytoband: 16q21
HGVS: NM_020312.4(COQ9):c.625C>G (p.Leu209Val)
Allele change: Missense_L209V

Associated conditions / phenotypes

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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.