Variant: rs1057516035 

    present in Gene: HLCS
    present in Chromosome: 21
    Position on Chromosome: 36936723
    Alleles of this Variant: C/G

rs1057516035 in HLCS gene and Holocarboxylase Synthetase Deficiency PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516035 in HLCS gene and Severe lactic acidosis PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.