Variant: rs144885874 

    present in Gene: BCS1L
    present in Chromosome: 2
    Position on Chromosome: 218661845
    Alleles of this Variant: C/T

rs144885874 in BCS1L gene and MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) PMID 17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

rs144885874 in BCS1L gene and MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 PMID 11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

PMID 18628306 2008 Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.

PMID 12910490 2003 Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.

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

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

PMID 19162478 2009 Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

PMID 22991165 2013 Clinical and biochemical features associated with BCS1L mutation.