Variant: rs1057516518 

    present in Gene: BCS1L
    present in Chromosome: 2
    Position on Chromosome: 218662963
    Alleles of this Variant: -/C

rs1057516518 in BCS1L gene and GRACILE SYNDROME (disorder) PMID 19285991 2009 Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain.