Variant (rsID / SNP)

rs281865493

rs281865493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TK2. Location: chromosome 16, position 66,562,958. Clinical significance in the table: Pathogenic.

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Reference-table entries

TK2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:66562958
Cytoband: 16q21
HGVS: NM_004614.5(TK2):c.388C>T (p.Arg130Trp)
Allele change: Missense_R105W

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.