Variant: rs137852865 

    present in Gene: HPD
    present in Chromosome: 12
    Position on Chromosome: 121849726
    Alleles of this Variant: T/C

rs137852865 in HPD gene and Tyrosinemia, Type III PMID 10942115 2000 Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

PMID 11073718 2000 Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.