Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

MTOR

mechanistic target of rapamycin kinase

Chromosome
1
Cytoband
1p36.22
Variants (rsID)
24

MTOR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.22). Its official name is “mechanistic target of rapamycin kinase”. The reference table lists 24 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

4 reference-table entries with clinical significance.

  • rs55881943Conflicting interpretationssingle nucleotide variant
  • rs786205165Pathogenicsingle nucleotide variantMacrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Renal cell carcinoma, papillary, 1|Breast neoplasm|Glioblastoma
  • rs863225264Pathogenicsingle nucleotide variantMacrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Inborn genetic diseases|Intellectual disability, severe|Rare genetic intellectual disability|CEBALID syndrome|Isolated focal cortical dysplasia type II|Intellectual disability
  • rs878855328Pathogenicsingle nucleotide variantMacrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

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.