Variant (rsID / SNP)
rs782092363
rs782092363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TKT. Location: chromosome 3, position 53,264,628. Clinical significance in the table: Pathogenic.
Reference-table entries
TKTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:53264628
- Cytoband
- 3p21.1
- HGVS
- NM_001064.4(TKT):c.952C>T (p.Arg318Cys)
- Allele change
- Missense_R318C
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.