Variant: rs28937590 

    present in Gene: BCS1L;ZNF142
    present in Chromosome: 2
    Position on Chromosome: 218661219
    Alleles of this Variant: A/G

rs28937590 in BCS1L;ZNF142 gene and GRACILE SYNDROME (disorder) PMID 12215968 2002 In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants.

PMID 25914718 2015 Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

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

rs28937590 in BCS1L;ZNF142 gene and MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 PMID 21274865 2011 The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.

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