Variant: rs1554796655

present in Gene: TRUB2;COQ4 present in Chromosome: 9 Position on Chromosome: 128322923 Alleles of this Variant: -/G

rs1554796655 in TRUB2;COQ4 gene and COENZYME Q10 DEFICIENCY, PRIMARY, 7 PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.