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Gene

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

Summary

Cytogenetic location
14q32.31
Coordinates
Chromosome 14: 101,964,573–102,056,443 (GRCh38)
Exons
78 exons across 91.9 kb
Protein
4,646 amino acids
Also known as
Dnchc1, HL-3, p22, DHC1, CMT2O
Previous symbols
DNECL, DNCL, DNCH1
MANE Select transcript
ENST00000360184.10NM_001376.5
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Charcot-Marie-Tooth Disease

    • Distal Hereditary Motor Neuropathy

      Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

  • Spinal Muscular Atrophy

    • A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care

  • Vitreoretinopathy

    • Vitreoretinal Degeneration
      • 3 GenCC submitters rate it definitive or strong

Broader groupings

How DYNC1H1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where DYNC1H1 sits. DYNC1H1 and 9 genes near it on chromosome 14, from 101,510,508 to 102,510,507.Chromosome 1414q32.31p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.33101.6 Mb101.8 Mb102 Mb102.2 Mb102.4 MbDIO3: 101,560,139–101,563,452, forward strandDIO3PPP2R5C: 101,761,639–101,928,953, forward strandPPP2R5CDYNC1H1: 101,964,573–102,056,443, forward strandDYNC1H1HSP90AA1: 102,080,738–102,139,773, reverse strandHSP90AA1WDR20: 102,139,503–102,224,847, forward strandWDR20MOK: 102,224,500–102,305,193, reverse strandMOKZNF839: 102,317,377–102,344,638, forward strandZNF839CINP: 102,341,102–102,362,916, reverse strandCINPTECPR2: 102,362,933–102,502,477, forward strandTECPR2ANKRD9: 102,501,767–102,509,824, reverse strandANKRD9Diagram of DYNC1H1: 78 exons on the forward strand of chromosome 14Exon 1: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 15 known disease-causing sitesExon 9: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 6 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 18: 3 known disease-causing sitesExon 20: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 22: 2 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 24: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 29: 4 known disease-causing sitesExon 30: 2 known disease-causing sitesExon 33: 1 known disease-causing siteExon 34: 6 known disease-causing sitesExon 35: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 38: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 41: 1 known disease-causing siteExon 42: 1 known disease-causing siteExon 45: 1 known disease-causing siteExon 46: 1 known disease-causing siteExon 47: 3 known disease-causing sitesExon 48: 1 known disease-causing siteExon 49: 2 known disease-causing sitesExon 50: 3 known disease-causing sitesExon 51: 1 known disease-causing siteExon 52: 5 known disease-causing sitesExon 53: 2 known disease-causing sitesExon 54: 4 known disease-causing sitesExon 55: 3 known disease-causing sitesExon 58: 4 known disease-causing sitesExon 59: 1 known disease-causing siteExon 60: 1 known disease-causing siteExon 63: 1 known disease-causing siteExon 66: 1 known disease-causing siteExon 69: 1 known disease-causing siteExon 77: 1 known disease-causing siteExon 1: 101,964,573–101,964,947, 375 basesExon 2: 101,975,712–101,975,799, 88 basesExon 3: 101,979,319–101,979,492, 174 basesExon 4: 101,979,719–101,979,974, 256 basesExon 5: 101,980,364–101,980,550, 187 basesExon 6: 101,983,019–101,983,290, 272 basesExon 7: 101,983,382–101,983,609, 228 basesExon 8: 101,985,687–101,986,763, 1,077 basesExon 9: 101,987,453–101,987,632, 180 basesExon 10: 101,988,703–101,988,852, 150 basesExon 11: 101,991,527–101,991,673, 147 basesExon 12: 101,994,184–101,994,324, 141 basesExon 13: 101,994,673–101,994,849, 177 basesExon 14: 101,994,986–101,995,096, 111 basesExon 15: 101,995,181–101,995,300, 120 basesExon 16: 101,997,035–101,997,274, 240 basesExon 17: 101,999,989–102,000,144, 156 basesExon 18: 102,000,286–102,000,399, 114 basesExon 19: 102,000,954–102,001,064, 111 basesExon 20: 102,001,145–102,001,354, 210 basesExon 21: 102,001,535–102,001,681, 147 basesExon 22: 102,002,537–102,002,703, 167 basesExon 23: 102,002,792–102,002,965, 174 basesExon 24: 102,004,518–102,004,683, 166 basesExon 25: 102,004,762–102,004,950, 189 basesExon 26: 102,005,042–102,005,236, 195 basesExon 27: 102,005,888–102,006,170, 283 basesExon 28: 102,007,008–102,007,108, 101 basesExon 29: 102,008,178–102,008,337, 160 basesExon 30: 102,009,843–102,010,086, 244 basesExon 31: 102,010,276–102,010,459, 184 basesExon 32: 102,010,740–102,010,952, 213 basesExon 33: 102,011,875–102,012,113, 239 basesExon 34: 102,012,314–102,012,470, 157 basesExon 35: 102,015,105–102,015,332, 228 basesExon 36: 102,015,856–102,016,086, 231 basesExon 37: 102,016,349–102,016,489, 141 basesExon 38: 102,016,766–102,016,999, 234 basesExon 39: 102,017,088–102,017,294, 207 basesExon 40: 102,017,383–102,017,504, 122 basesExon 41: 102,018,451–102,018,616, 166 basesExon 42: 102,019,893–102,020,056, 164 basesExon 43: 102,022,751–102,022,880, 130 basesExon 44: 102,026,574–102,026,707, 134 basesExon 45: 102,027,174–102,027,288, 115 basesExon 46: 102,027,383–102,027,544, 162 basesExon 47: 102,027,619–102,027,833, 215 basesExon 48: 102,027,937–102,028,141, 205 basesExon 49: 102,029,539–102,029,712, 174 basesExon 50: 102,029,819–102,029,938, 120 basesExon 51: 102,030,162–102,030,282, 121 basesExon 52: 102,032,272–102,032,467, 196 basesExon 53: 102,033,065–102,033,182, 118 basesExon 54: 102,033,269–102,033,484, 216 basesExon 55: 102,033,976–102,034,188, 213 basesExon 56: 102,034,325–102,034,452, 128 basesExon 57: 102,036,489–102,036,642, 154 basesExon 58: 102,038,460–102,038,606, 147 basesExon 59: 102,038,698–102,038,848, 151 basesExon 60: 102,039,001–102,039,254, 254 basesExon 61: 102,039,412–102,039,546, 135 basesExon 62: 102,039,638–102,039,732, 95 basesExon 63: 102,040,236–102,040,410, 175 basesExon 64: 102,040,598–102,040,673, 76 basesExon 65: 102,041,574–102,041,734, 161 basesExon 66: 102,042,013–102,042,124, 112 basesExon 67: 102,042,228–102,042,288, 61 basesExon 68: 102,042,384–102,042,507, 124 basesExon 69: 102,042,635–102,042,748, 114 basesExon 70: 102,043,875–102,044,045, 171 basesExon 71: 102,044,274–102,044,491, 218 basesExon 72: 102,044,595–102,044,698, 104 basesExon 73: 102,047,817–102,048,028, 212 basesExon 74: 102,048,516–102,048,669, 154 basesExon 75: 102,049,440–102,049,582, 143 basesExon 76: 102,049,714–102,049,882, 169 basesExon 77: 102,050,071–102,050,198, 128 basesExon 78: 102,050,435–102,056,443, 6,009 bases151015202530354045505560657075785′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 19.9 kb of the gene's 91.9 kb; 13,941 of those bases code for the protein.

How a genome test reads DYNC1H1

119

positions in DYNC1H1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 91.9 kb of DYNC1H1, introns included, not only the 19.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). DYNC1H1 gene: dynein cytoplasmic 1 heavy chain 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/dync1h1

Vancouver

Dante Labs. DYNC1H1 gene: dynein cytoplasmic 1 heavy chain 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dync1h1

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