Variant (rsID / SNP)
rs137854431
rs137854431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TK2. Location: chromosome 16, position 66,565,335. Clinical significance in the table: Pathogenic.
Reference-table entries
TK2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:66565335
- Cytoband
- 16q21
- HGVS
- NM_004614.5(TK2):c.323C>T (p.Thr108Met)
- Allele change
- Missense_T83M
Associated conditions / phenotypes
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.