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Gene entry

GJB1

gap junction protein beta 1

Chromosome
X
Cytoband
Xq13.1
Variants (rsID)
34

GJB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq13.1). Its official name is “gap junction protein beta 1”. The reference table lists 34 variants (rsID) for this gene.

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Clinically classified variants

26 reference-table entries with clinical significance.

  • rs587781246Benignsingle nucleotide variantCharcot-Marie-Tooth disease|Charcot-Marie-Tooth Neuropathy X
  • rs104894823Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth disease
  • rs863224612Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth Neuropathy X
  • rs116840822Likely pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth disease
  • rs104894810Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X
  • rs104894811Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X
  • rs104894812Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease
  • rs104894814Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X
  • rs104894817Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1
  • rs104894819Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X
  • rs104894820Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1
  • rs104894821Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease
  • rs104894822Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X
  • rs104894824Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth Neuropathy X
  • rs104894826Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Dejerine-Sottas disease
  • rs116840815Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease
  • rs116840818Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth Neuropathy X
  • rs116840819Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease
  • rs139643362Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked dominant 1|Charcot-Marie-Tooth Neuropathy X
  • rs756928158Pathogenicsingle nucleotide variantCharcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease X-linked dominant 1
  • rs864622215Pathogenicsingle nucleotide variantCharcot-Marie-Tooth Neuropathy X
  • rs876661269Pathogenicsingle nucleotide variantCharcot-Marie-Tooth Neuropathy X
  • rs878853697Pathogenicsingle nucleotide variantCharcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease
  • rs879254047Pathogenicsingle nucleotide variantCharcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease X-linked dominant 1
  • rs879254097Pathogenicsingle nucleotide variantCharcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease
  • rs144381053Uncertain significancesingle nucleotide variantCharcot-Marie-Tooth disease

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.