Variant (rsID / SNP)

rs184770596

rs184770596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,166,105. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DGUOKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:74166105
Cytoband: 2p13.1
HGVS: NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
Allele change: Missense_P71A

Associated conditions / phenotypes

Inborn genetic diseases|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.