Variant: rs371271054 

    present in Gene: TPK1
    present in Chromosome: 7
    Position on Chromosome: 144453621
    Alleles of this Variant: T/C

rs371271054 in TPK1 gene and THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) PMID 22152682 2011 Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.