Variant (rsID / SNP)

rs145252858

rs145252858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,154,160. 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: 2:74154160
Cytoband: 2p13.1
HGVS: NM_080916.3(DGUOK):c.123C>G (p.Leu41=)
Allele change: Synonymous_L41L

Associated conditions / phenotypes

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.