Variant (rsID / SNP)

rs62641680

rs62641680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DGUOK. Location: chromosome 2, position 74,166,053. Clinical significance in the table: Benign.

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Reference-table entries

DGUOKBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:74166053
Cytoband: 2p13.1
HGVS: NM_080916.3(DGUOK):c.159G>A (p.Thr53=)
Allele change: Synonymous_T53T

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.