Variant: rs387906738 

    present in Gene: DYNC1H1
    present in Chromosome: 14
    Position on Chromosome: 101980506
    Alleles of this Variant: A/G

rs387906738 in DYNC1H1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

PMID 25512093 2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

rs387906738 in DYNC1H1 gene and Charcot-Marie-Tooth Disease PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

rs387906738 in DYNC1H1 gene and Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.

PMID 25512093 2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

PMID 26846447 2016 Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.

PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.

PMID 25484024 2015 Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.