Gene entry
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
- Chromosome
- 11
- Cytoband
- 11q22.3
- Variants (rsID)
- 79
DYNC2H1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q22.3). Its official name is “dynein cytoplasmic 2 heavy chain 1”. The reference table lists 79 variants (rsID) for this gene.
Clinically classified variants
31 reference-table entries with clinical significance.
- rs10895391Benignsingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs11225584Benignsingle nucleotide variantAsphyxiating thoracic dystrophy 3|Jeune thoracic dystrophy
- rs116872934Benignsingle nucleotide variantJeune thoracic dystrophy|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy 3
- rs117178504Benignsingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs146569005Benignsingle nucleotide variantJeune thoracic dystrophy
- rs199568537Benignsingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs61898615Benignsingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs688906Benignsingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs112718117Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy 3
- rs118191062Conflicting interpretationssingle nucleotide variantShort rib-polydactyly syndrome|Jeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs137853026Conflicting interpretationssingle nucleotide variantAsphyxiating thoracic dystrophy 3|Jeune thoracic dystrophy
- rs137853027Conflicting interpretationssingle nucleotide variantAsphyxiating thoracic dystrophy 3|Short rib-polydactyly syndrome|Jeune thoracic dystrophy|Fetal growth restriction|Narrow chest|Bowing of the long bones|DYNC2H1-Related Disorders
- rs140830294Conflicting interpretationssingle nucleotide variantShort rib-polydactyly syndrome|Jeune thoracic dystrophy
- rs144717489Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs180787556Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy 3
- rs200208000Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs200342335Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs200466720Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3|Intellectual disability
- rs202071528Conflicting interpretationssingle nucleotide variant
- rs202082545Conflicting interpretationssingle nucleotide variantShort rib-polydactyly syndrome|Jeune thoracic dystrophy
- rs369045696Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs61737514Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy 3
- rs761765709Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy|Asphyxiating thoracic dystrophy 3
- rs864622357Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy
- rs878854166Conflicting interpretationssingle nucleotide variantJeune thoracic dystrophy
- rs864622111Likely pathogenicsingle nucleotide variantJeune thoracic dystrophy
- rs137853028Pathogenicsingle nucleotide variantAsphyxiating thoracic dystrophy 3
- rs864622358Pathogenicsingle nucleotide variantJeune thoracic dystrophy
- rs139902197Uncertain significancesingle nucleotide variantJeune thoracic dystrophy|Short rib-polydactyly syndrome
- rs190819700Uncertain significancesingle nucleotide variant
- rs368058473Uncertain significancesingle nucleotide variantJeune thoracic dystrophy
Other listed variants
- rs313381
- rs313403
- rs313409
- rs313862
- rs548142
- rs589943
- rs625061
- rs630007
- rs3912622
- rs7118634
- rs7948029
- rs7950038
- rs10895403
- rs11225703
- rs11225813
- rs11225815
- rs12420792
- rs12790546
- rs17100943
- rs61899769
- rs71480491
- rs72971585
- rs72971602
- rs74890708
- rs75994449
- rs111267979
- rs111839693
- rs111992783
- rs112176359
- rs113477737
- rs117042755
- rs117124716
- rs117132014
- rs117342740
- rs117353967
- rs117482735
- rs117682901
- rs118117890
- rs118149938
- rs140222412
- rs143897285
- rs145054152
- rs149123994
- rs149452352
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.