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.