Variant: rs1057519566 

    present in Gene: MDH2
    present in Chromosome: 7
    Position on Chromosome: 76063579
    Alleles of this Variant: C/T

rs1057519566 in MDH2 gene and Drug Resistant Epilepsy PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs1057519566 in MDH2 gene and Encephalopathy, CTCAE 3.0 PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs1057519566 in MDH2 gene and Generalized hypotonia PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs1057519566 in MDH2 gene and Global developmental delay PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs1057519566 in MDH2 gene and Infantile encephalopathy PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

rs1057519566 in MDH2 gene and Pediatric failure to thrive PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.