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Gene entry

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

Chromosome
14
Cytoband
14q32.31
Variants (rsID)
46

DYNC1H1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q32.31). Its official name is “dynein cytoplasmic 1 heavy chain 1”. The reference table lists 46 variants (rsID) for this gene.

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Clinically classified variants

35 reference-table entries with clinical significance.

  • rs114021657Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs117199211Benignsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease
  • rs138407720Benignsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder|Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease
  • rs138571942Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs139919955Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease
  • rs144359313Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder
  • rs149395439Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs149753029Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs17541165Benignsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease
  • rs17541519Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease
  • rs17541650Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs192594531Benignsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder|Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease
  • rs199763298Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs202110844Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs375593873Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O
  • rs533327200Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs74874468Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs75094258Benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O
  • rs140841480Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Intellectual disability, autosomal dominant 13|Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures|Charcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease
  • rs145487328Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder
  • rs146220233Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder
  • rs149496322Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder|Intellectual disability, autosomal dominant 13
  • rs150286673Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease
  • rs150888094Conflicting interpretationssingle nucleotide variantAutosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease|Intellectual disability, autosomal dominant 13
  • rs151001016Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|History of neurodevelopmental disorder
  • rs186932188Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease
  • rs201174299Conflicting interpretationssingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O
  • rs201518717Conflicting interpretationssingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O
  • rs34338935Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder
  • rs35546990Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2O
  • rs377669980Conflicting interpretationssingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs797045535Conflicting interpretationssingle nucleotide variantAutosomal dominant childhood-onset proximal spinal muscular atrophy without contractures|Charcot-Marie-Tooth disease axonal type 2O|Intellectual disability, autosomal dominant 13
  • rs192959810Likely benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease
  • rs375767483Likely benignsingle nucleotide variantAutosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease
  • rs797045177Likely pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 13|Lissencephaly

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.