Variant: rs121908572 

    present in Gene: ZNF142;BCS1L
    present in Chromosome: 2
    Position on Chromosome: 218661283
    Alleles of this Variant: C/T

rs121908572 in ZNF142;BCS1L gene and GRACILE SYNDROME (disorder) PMID 23892085 2013 Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.

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

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

PMID 24655110 2014 Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome.

rs121908572 in ZNF142;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 22991165 2013 Clinical and biochemical features associated with BCS1L mutation.

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

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

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

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

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