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Gene entry

EGR2

early growth response 2

Chromosome
10
Cytoband
10q21.3
Variants (rsID)
4

EGR2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q21.3). Its official name is “early growth response 2”. The reference table lists 4 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs143793213Benignsingle nucleotide variantCharcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease type 1D
  • rs104894161Pathogenicsingle nucleotide variantDejerine-sottas neuropathy, autosomal dominant|Charcot-Marie-Tooth disease type 1D|Dejerine-Sottas disease|Charcot-Marie-Tooth disease, type I|Charcot-Marie-Tooth disease
  • rs864622273Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease, type I

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.