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Variant (rsID / SNP)

rs201388841

PDSS2

rs201388841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDSS2. Location: chromosome 6, position 107,475,977. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PDSS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:107475977
Cytoband
6q21
HGVS
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)
Allele change
Missense_R349Q

Associated conditions / phenotypes

Coenzyme Q10 deficiency, primary, 3

Public references

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