Variant (rsID / SNP)

rs863223949

rs863223949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,184,263. Clinical significance in the table: Pathogenic.

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Reference-table entries

DGUOKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Microsatellite
Chromosome / position: 2:74184263
Cytoband: 2p13.1
HGVS: NM_080916.3(DGUOK):c.605_606del (p.Arg202fs)

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 3|Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK 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.