Gene entry
MTMR2
myotubularin related protein 2
- Chromosome
- 11
- Cytoband
- 11q21
- Variants (rsID)
- 14
MTMR2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q21). Its official name is “myotubularin related protein 2”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs112327353Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
- rs113897932Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1|Charcot-Marie-Tooth disease
- rs141498429Conflicting interpretationsDeletionCharcot-Marie-Tooth disease type 4
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.