DYNC2H1 Chromosome 11
Dynein cytoplasmic 2 heavy chain 1
Upload your DNA to see your personal genotypes for variants in DYNC2H1.
What This Gene Does
This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Dynein 2 complex subunits
Locus Type
gene with protein product
Location
11q22.3
Ensembl
ENSG00000187240
Associated Conditions (36)
Jeune thoracic dystrophy
Inborn genetic diseases
Asphyxiating thoracic dystrophy 3
DYNC2H1-related disorder
Intellectual disability
Retinal dystrophy
Neonatal respiratory distress
Optic atrophy
Renal cyst
Type IV short rib polydactyly syndrome
Gastric cancer
Lung cancer
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
+16 more conditions
Key Variants
RS1057524234
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Inborn genetic diseases, Jeune thoracic dystrophy
Health Risk
RS1060501431
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
Health Risk
RS1178331074
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
Health Risk
RS1238325809
Conflicting classifications of pathogenicity
Inborn genetic diseases, Jeune thoracic dystrophy, Inborn genetic diseases
Health Risk
RS1265669915
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Jeune thoracic dystrophy
Health Risk
RS1290058471
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
Health Risk
RS137853026
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
Health Risk
RS138290301
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
Health Risk
RS1386325793
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
Health Risk
RS142920070
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Inborn genetic diseases, Asphyxiating thoracic dystrophy 3
Health Risk
RS143172984
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
Health Risk
RS149452352
Conflicting classifications of pathogenicity
Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, DYNC2H1-related disorder
Health Risk
All Variants (615)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS756811136 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS767206815 | Health Risk | Pathogenic/Likely pathogenic | Short rib-polydactyly syndrome, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |
| RS770936919 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS771003300 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, DYNC2H1-related disorder |
| RS771487311 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS780539887 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, DYNC2H1-related disorder |
| RS780600124 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |
| RS780855765 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS864622358 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS867777631 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS878852996 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS901629870 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |
| RS963717773 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy |
| RS969015057 | Health Risk | Pathogenic/Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS989023092 | Health Risk | Pathogenic/Likely pathogenic | Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |