RS137854429 TK2

Health Risk Chr 16:66531393 snv missense variant
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What This Variant Does
"Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form),...
Associated Conditions
Mitochondrial DNA depletion syndrome
myopathic form
Mitochondrial disease
Mitochondrial DNA depletion syndrome
myopathic form
Mitochondrial disease
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
100%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in TK2
rs137854430 rs137854431 rs137854432 rs281865500 rs281865486 rs281865503 rs281865504 rs281865499 rs138439950 rs281865487
Ask Dr. Hemsworth about this variant