Gene entry
DGUOK
deoxyguanosine kinase
- Chromosome
- 2
- Cytoband
- 2p13.1
- Variants (rsID)
- 19
DGUOK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p13.1). Its official name is “deoxyguanosine kinase”. The reference table lists 19 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs145252858Benignsingle nucleotide variantMitochondrial DNA depletion syndrome 3
- rs377000908Benignsingle nucleotide variant
- rs62641680Benignsingle nucleotide variantMitochondrial DNA depletion syndrome 3
- rs74874677Benignsingle nucleotide variantAdult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency|Mitochondrial DNA depletion syndrome 3
- rs144181978Conflicting interpretationssingle nucleotide variantAdult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- rs199531052Conflicting interpretationssingle nucleotide variant
- rs200169027Conflicting interpretationssingle nucleotide variant
- rs370071744Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome 3
- rs536746349Conflicting interpretationssingle nucleotide variantAdult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- rs866403196Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome 3
- rs863223949PathogenicMicrosatelliteMitochondrial DNA depletion syndrome 3|Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- rs184770596Uncertain significancesingle nucleotide variantInborn genetic diseases|Mitochondrial DNA depletion syndrome 3
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.