Variant: rs121908579 

    present in Gene: ZNF142;BCS1L
    present in Chromosome: 2
    Position on Chromosome: 218661090
    Alleles of this Variant: G/C

rs121908579 in ZNF142;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.