Variant (rsID / SNP)
rs181882616
rs181882616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPI1. Location: chromosome 12, position 6,976,702. Clinical significance in the table: Uncertain significance.
Reference-table entries
TPI1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:6976702
- Cytoband
- 12p13.31
- HGVS
- NM_000365.6(TPI1):c.-29C>T
- Allele change
- Missense_T28S
Associated conditions / phenotypes
Triosephosphate isomerase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.