Variant: rs386834069 

    present in Gene: COX6C;VPS13B
    present in Chromosome: 8
    Position on Chromosome: 99875502
    Alleles of this Variant: CCAGCTGTTC/-

rs386834069 in COX6C;VPS13B gene and Cohen syndrome PMID 19006247 2009 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.