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Variant (rsID / SNP)

rs281865494

TK2

rs281865494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TK2. Location: chromosome 16, position 66,562,930. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TK2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:66562930
Cytoband
16q21
HGVS
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
Allele change
Missense_A114V

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome, myopathic form|Mitochondrial DNA depletion syndrome|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|Mitochondrial DNA depletion syndrome, myopathic form

Public references

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