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Variant (rsID / SNP)

rs144181978

DGUOK

rs144181978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,177,730. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DGUOKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:74177730
Cytoband
2p13.1
HGVS
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
Allele change
Silent

Associated conditions / phenotypes

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.