Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

DCTN1

dynactin subunit 1

Chromosome
2
Cytoband
2p13.1
Variants (rsID)
16

DCTN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p13.1). Its official name is “dynactin subunit 1”. The reference table lists 16 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

9 reference-table entries with clinical significance.

  • rs143763184Benignsingle nucleotide variantNeuronopathy, distal hereditary motor, type 7B|Perry syndrome|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B|Perry syndrome
  • rs143800457Benignsingle nucleotide variantPerry syndrome|Neuronopathy, distal hereditary motor, type 7B|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B|Perry syndrome
  • rs72466496Benignsingle nucleotide variantAmyotrophic lateral sclerosis, susceptibility to|Perry syndrome|Amyotrophic lateral sclerosis type 1|Perry syndrome|Neuronopathy, distal hereditary motor, type 7B|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B
  • rs72466494Conflicting interpretationssingle nucleotide variantNeuronopathy, distal hereditary motor, type 7B|Perry syndrome|Amyotrophic lateral sclerosis type 1|Perry syndrome|Neuronopathy, distal hereditary motor, type 7B
  • rs72659383Conflicting interpretationssingle nucleotide variantNeuronopathy, distal hereditary motor, type 7B|Perry syndrome|Amyotrophic lateral sclerosis type 1|Perry syndrome|Neuronopathy, distal hereditary motor, type 7B
  • rs72466487Pathogenicsingle nucleotide variantPerry syndrome
  • rs121909343Risk factorsingle nucleotide variantAmyotrophic lateral sclerosis, susceptibility to
  • rs121909344Uncertain significancesingle nucleotide variantAmyotrophic lateral sclerosis, susceptibility to|Charcot-Marie-Tooth disease|Perry syndrome|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B|Perry syndrome
  • rs150368544Uncertain significancesingle nucleotide variantAmyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B|Perry syndrome|Frontotemporal dementia

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.