Variant: rs137853192 

    present in Gene: SDHAF1
    present in Chromosome: 19
    Position on Chromosome: 35995443
    Alleles of this Variant: G/C

rs137853192 in SDHAF1 gene and Mitochondrial Complex II Deficiency PMID 22995659 2012 Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

PMID 26749241 2016 Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

PMID 19465911 2009 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.