Variant (rsID / SNP)

rs537781419

rs537781419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS1. Location: chromosome 10, position 26,986,612. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDSS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:26986612
Cytoband: 10p12.1
HGVS: NM_014317.4(PDSS1):c.-29C>T
Allele change: Silent

Associated conditions / phenotypes

Coenzyme Q10 deficiency

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.