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Gene entry

EMD

emerin

Chromosome
X
Cytoband
Xq28
Variants (rsID)
12

EMD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “emerin”. The reference table lists 12 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs144594695Benignsingle nucleotide variantX-linked Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy
  • rs145985318Benignsingle nucleotide variantX-linked Emery-Dreifuss muscular dystrophy|Cardiovascular phenotype|Cardiomyopathy
  • rs151074632Benignsingle nucleotide variantX-linked Emery-Dreifuss muscular dystrophy|Cardiovascular phenotype|Emery-Dreifuss muscular dystrophy
  • rs137977232Conflicting interpretationssingle nucleotide variantCardiomyopathy|X-linked Emery-Dreifuss muscular dystrophy
  • rs139983160Conflicting interpretationssingle nucleotide variantCardiomyopathy|X-linked Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy
  • rs148515772Conflicting interpretationssingle nucleotide variantCardiomyopathy|X-linked Emery-Dreifuss muscular dystrophy
  • rs782011714Conflicting interpretationssingle nucleotide variantX-linked Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy
  • rs782367505Conflicting interpretationssingle nucleotide variantX-linked Emery-Dreifuss muscular dystrophy
  • rs132630262Pathogenicsingle nucleotide variantX-linked Emery-Dreifuss muscular dystrophy
  • rs267606782Pathogenicsingle nucleotide variantX-linked Emery-Dreifuss muscular dystrophy
  • rs876661345PathogenicDuplicationCardiovascular phenotype|X-linked Emery-Dreifuss muscular dystrophy

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.