Variant: rs888630930

present in Gene: ZGLP1;FDX2 present in Chromosome: 19 Position on Chromosome: 10310616 Alleles of this Variant: G/A

rs888630930 in ZGLP1;FDX2 gene and Mitochondrial Myopathies PMID 24281368 2014 Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

PMID 30010796 2018 A novel complex neurological phenotype due to a homozygous mutation in FDX2.