Variant (rsID / SNP)

rs74874677

rs74874677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,177,777. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DGUOKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:74177777
Cytoband: 2p13.1
HGVS: NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
Allele change: Silent

Associated conditions / phenotypes

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

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.