present in Gene: DYNC1H1
present in Chromosome: 14
Position on Chromosome: 101994794
Alleles of this Variant: T/C
rs1555408829 in
DYNC1H1 gene and
Dysmorphic features
PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
PMID 19074350 2008 Structure and functional role of dynein's microtubule-binding domain.
PMID 15826937 2005 The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk.
PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
PMID 25609763 2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
PMID 29243232 2018 A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
PMID 28325891 2017 Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
PMID 9781046 1998 Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.
PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
PMID 21076407 2010 A de novo paradigm for mental retardation.
PMID 16519653 2006 Human disorders of cortical development: from past to present.
PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
rs1555408829 in
DYNC1H1 gene and
Muscle hypotonia
PMID 22368300 2012 Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
PMID 28325891 2017 Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
PMID 16519653 2006 Human disorders of cortical development: from past to present.
PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
PMID 9781046 1998 Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.
PMID 19074350 2008 Structure and functional role of dynein's microtubule-binding domain.
PMID 21076407 2010 A de novo paradigm for mental retardation.
PMID 25609763 2015 Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
PMID 15826937 2005 The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk.
PMID 29243232 2018 A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.