Variant (rsID / SNP)

rs8500

rs8500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ6, ENTPD5. Location: chromosome 14, position 74,428,445. Clinical significance in the table: Benign.

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Reference-table entries

COQ6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:74428445
Cytoband: 14q24.3
HGVS: NM_182476.3(COQ6):c.1216G>A (p.Val406Met)
Allele change: Missense_V381M

Associated conditions / phenotypes

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

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.