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Variant (rsID / SNP)

rs866403196

DGUOK

rs866403196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,184,365. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DGUOKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:74184365
Cytoband
2p13.1
HGVS
NM_080916.3(DGUOK):c.705G>A (p.Thr235=)
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 3

Public references

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