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Variant (rsID / SNP)

rs138439950

TK2

rs138439950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TK2. Location: chromosome 16, position 66,575,840. 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
16:66575840
Cytoband
16q21
HGVS
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome, myopathic form|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.