Variant: rs121908577 

    present in Gene: BCS1L
    present in Chromosome: 2
    Position on Chromosome: 218661846
    Alleles of this Variant: G/A

rs121908577 in BCS1L gene and Leigh Disease PMID 25895478 2015 Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

PMID 19389488 2009 Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

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

PMID 24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

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

rs121908577 in BCS1L gene and Pili torti-deafness syndrome PMID 24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

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