Variant: rs1553597538 

    present in Gene: BCS1L
    present in Chromosome: 2
    Position on Chromosome: 218662571
    Alleles of this Variant: CT/-

rs1553597538 in BCS1L gene and Movement Disorders PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

PMID 12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

PMID 19508421 2009 Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.