Variant (rsID / SNP)

rs16956600

rs16956600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TK2. Location: chromosome 16, position 66,545,982. Clinical significance in the table: Benign.

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Reference-table entries

TK2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:66545982
Cytoband: 16q21
HGVS: NM_004614.5(TK2):c.700-13G>A
Allele change: Silent

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.