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Gene entry

DST

dystonin

Chromosome
6
Cytoband
6p12.1
Variants (rsID)
93

DST is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6p12.1). Its official name is “dystonin”. The reference table lists 93 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs1024196Benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs112640831Benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs139350480Benignsingle nucleotide variantEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs150191284Benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs2144407Benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs35497571Benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs41271870Benignsingle nucleotide variantEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs4715631Benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
  • rs138553142Conflicting interpretationssingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
  • rs143101723Conflicting interpretationssingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs17674547Conflicting interpretationssingle nucleotide variantHereditary sensory and autonomic neuropathy type 6
  • rs201045495Conflicting interpretationssingle nucleotide variantEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
  • rs775912185Conflicting interpretationsDeletionHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
  • rs143924906Likely benignsingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
  • rs138162782Uncertain significancesingle nucleotide variantHereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs191160112Uncertain significancesingle nucleotide variantEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs199657045Uncertain significancesingle nucleotide variantEpidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6
  • rs41271862Not classifiedmissense_variant
  • rs45582036Not classifiedmissense_variant

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.