Gene entry
TPK1
thiamin pyrophosphokinase 1
- Chromosome
- 7
- Cytoband
- 7q35
- Variants (rsID)
- 62
TPK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q35). Its official name is “thiamin pyrophosphokinase 1”. The reference table lists 62 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs371271054Pathogenicsingle nucleotide variantChildhood encephalopathy due to thiamine pyrophosphokinase deficiency
- rs375169579Pathogenicsingle nucleotide variantChildhood encephalopathy due to thiamine pyrophosphokinase deficiency
Other listed variants
- rs40228
- rs228587
- rs886469
- rs1476612
- rs1547941
- rs1635354
- rs1731108
- rs2040898
- rs2057868
- rs4725658
- rs4726711
- rs6956531
- rs6979644
- rs7783309
- rs7796878
- rs7804157
- rs10266578
- rs10272083
- rs10274162
- rs10280828
- rs11766638
- rs12535518
- rs12703605
- rs13245975
- rs17170231
- rs17170259
- rs17170274
- rs17170937
- rs62484402
- rs73159102
- rs73161012
- rs73161014
- rs73161073
- rs73166575
- rs73458168
- rs74550517
- rs74907780
- rs75667489
- rs76017229
- rs76185049
- rs76402438
- rs76421699
- rs76501465
- rs76659004
- rs77314854
- rs78002217
- rs79938217
- rs79958432
- rs112761517
- rs112783084
- rs116852712
- rs117110273
- rs117392593
- rs117759596
- rs117837628
- rs117843550
- rs118156888
- rs143763507
- rs151247158
- rs201237707
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.