Variant (rsID / SNP)
rs868953318
rs868953318 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TKT. Location: chromosome 3, position 53,267,287. Clinical significance in the table: Pathogenic.
Reference-table entries
TKTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:53267287
- Cytoband
- 3p21.1
- HGVS
- NM_001064.4(TKT):c.633G>A (p.Trp211Ter)
- Allele change
- Nonsense_W211X
Associated conditions / phenotypes
Transketolase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.