Variant: rs267606896

present in Gene: CYTB;ND5 present in Chromosome: MT Position on Chromosome: 13084 Alleles of this Variant: A/T

rs267606896 in CYTB;ND5 gene and Leigh Disease PMID 11938446 2002 Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

PMID 12796552 2003 A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

PMID 17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.