Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

MTM1

myotubularin 1

Chromosome
X
Cytoband
Xq28
Variants (rsID)
26

MTM1 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 “myotubularin 1”. The reference table lists 26 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

6 reference-table entries with clinical significance.

  • rs132630302Pathogenicsingle nucleotide variantSevere X-linked myotubular myopathy
  • rs132630304Pathogenicsingle nucleotide variantSevere X-linked myotubular myopathy
  • rs132630305Pathogenicsingle nucleotide variantSevere X-linked myotubular myopathy
  • rs132630306Pathogenicsingle nucleotide variantSevere X-linked myotubular myopathy
  • rs587783752PathogenicDeletionSevere X-linked myotubular myopathy
  • rs587783772Pathogenicsingle nucleotide variantSevere X-linked myotubular myopathy|Spastic paraplegia

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.