Variant: rs786205436

present in Gene: SDHD present in Chromosome: 11 Position on Chromosome: 112088972 Alleles of this Variant: A/G;T

rs786205436 in SDHD gene and Cardiomyopathies PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

rs786205436 in SDHD gene and Fatal infantile mitochondrial cardiomyopathy PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

rs786205436 in SDHD gene and Neoplastic Syndromes, Hereditary PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 26008905 2015 A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

PMID 25300370 2014 Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.