Variant: rs387906739 

    present in Gene: LOC107984661;DYNC1H1
    present in Chromosome: 14
    Position on Chromosome: 102039416
    Alleles of this Variant: A/C

rs387906739 in LOC107984661;DYNC1H1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.