DYNC1H1 Chromosome 14
Dynein cytoplasmic 1 heavy chain 1
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What This Gene Does
Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Dynein 1 complex subunits
Locus Type
gene with protein product
Location
14q32.31
Ensembl
ENSG00000197102
Associated Conditions (49)
Charcot-Marie-Tooth disease axonal type 2O
Intellectual disability
autosomal dominant 13
Inborn genetic diseases
Autosomal dominant cerebellar ataxia
DYNC1H1-related disorder
9 conditions
Distal lower limb muscle weakness
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Charcot-Marie-Tooth disease
DYNC1H1-related neurodevelopmental disorders
Lissencephaly
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Charcot-Marie-Tooth disease type 5
See cases
Distal myopathy
Rhizomelic chondrodysplasia punctata type 5
Asphyxiating thoracic dystrophy 3
Neuronopathy
+29 more conditions
Key Variants
RS1011204533
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1018948570
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability, autosomal dominant 13
Health Risk
RS1024563256
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1028991666
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, DYNC1H1-related disorder, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1034508175
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1034994263
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1043956265
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1049866462
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1057518888
Conflicting classifications of pathogenicity
9 conditions, Charcot-Marie-Tooth disease axonal type 2O, 9 conditions
Health Risk
RS1057518935
Conflicting classifications of pathogenicity
Distal lower limb muscle weakness, Inborn genetic diseases, Distal lower limb muscle weakness
Health Risk
RS1057522534
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
RS1060502204
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
Health Risk
All Variants (531)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2503726588 | Health Risk | Likely pathogenic | DYNC1H1-related disorder, DYNC1H1-related disorder |
| RS2503727339 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Intellectual disability |
| RS2503727356 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Intellectual disability |
| RS2503730449 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2503731165 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2503742080 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2503750754 | Health Risk | Likely pathogenic | DYNC1H1-related disorder, DYNC1H1-related disorder |
| RS2503751017 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Intellectual disability, autosomal dominant 13 |
| RS2503751910 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2503757710 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Intellectual disability |
| RS2503757868 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Intellectual disability |
| RS2503773145 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Intellectual disability |
| RS2503812014 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS2503823659 | Health Risk | Likely pathogenic | — |
| RS2503843400 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2503844940 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS2503893341 | Health Risk | Likely pathogenic | — |
| RS368821864 | Health Risk | Likely pathogenic | — |
| RS373682811 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS377013246 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2O, DYNC1H1-related disorder, Charcot-Marie-Tooth disease axonal type 2O |
| RS387906743 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures |
| RS713993043 | Health Risk | Likely pathogenic | Spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2O, Neuronopathy |
| RS727505393 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures |
| RS763711252 | Health Risk | Likely pathogenic | — |
| RS768991876 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Intellectual disability |
| RS77216005 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures |
| RS797044901 | Health Risk | Likely pathogenic | Inborn genetic diseases, Intellectual disability, Charcot-Marie-Tooth disease axonal type 2O |
| RS797045529 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Lissencephaly |
| RS863223361 | Health Risk | Likely pathogenic | Abnormality of neuronal migration, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Abnormality of neuronal migration |
| RS866242352 | Health Risk | Likely pathogenic | — |
| RS879253971 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 13, Intellectual disability |
| RS879254021 | Health Risk | Likely pathogenic | — |
| RS879254085 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant |
| RS879254112 | Health Risk | Likely pathogenic | — |
| RS879254284 | Health Risk | Likely pathogenic | — |
| RS1057518083 | Health Risk | Pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability |
| RS1351401023 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS1370693832 | Health Risk | Pathogenic | DYNC1H1-related disorder, DYNC1H1-related disorder |
| RS1387399556 | Health Risk | Pathogenic | — |
| RS1421708361 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS1429535306 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS1555408131 | Health Risk | Pathogenic | — |
| RS1555408333 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant |
| RS1555408829 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 13 |
| RS1555411399 | Health Risk | Pathogenic | — |
| RS2047931446 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS2048519381 | Health Risk | Pathogenic | Lissencephaly, Seizure, Charcot-Marie-Tooth disease axonal type 2O |
| RS2141272574 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O |
| RS2141278577 | Health Risk | Pathogenic | — |
| RS2141280974 | Health Risk | Pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures |