Variant: rs777593389 

    present in Gene: VPS13B
    present in Chromosome: 8
    Position on Chromosome: 99156693
    Alleles of this Variant: C/T

rs777593389 in VPS13B gene and Cohen syndrome PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs777593389 in VPS13B gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs777593389 in VPS13B gene and Microcephaly (physical finding) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.