Variant (rsID / SNP)

rs754140768

rs754140768 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TK2. Location: chromosome 16, position 66,547,653. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TK2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:66547653
Cytoband: 16q21
HGVS: NM_004614.5(TK2):c.680C>T (p.Pro227Leu)
Allele change: Missense_P202L

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome, myopathic form

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.