Variant: rs119466000 

    present in Gene: LRPPRC
    present in Chromosome: 2
    Position on Chromosome: 43974244
    Alleles of this Variant: G/A

rs119466000 in LRPPRC gene and Leigh syndrome , French Canadian type PMID 12529507 2003 Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

PMID 21266382 2011 LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

PMID 17050673 2006 Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex.