Variant: rs137852767

present in Gene: SDHA present in Chromosome: 5 Position on Chromosome: 251011 Alleles of this Variant: C/T

rs137852767 in SDHA gene and Leigh Disease PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PMID 24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

PMID 7550341 1995 Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.