Gene entry
MYOT
myotilin
- Chromosome
- 5
- Cytoband
- 5q31.2
- Variants (rsID)
- 14
MYOT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q31.2). Its official name is “myotilin”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs199789331Benignsingle nucleotide variantMyofibrillar myopathy 3
- rs71578935Benignsingle nucleotide variantMyofibrillar myopathy 3|Heart failure|Spheroid body myopathy
- rs140678912Conflicting interpretationssingle nucleotide variantMyofibrillar myopathy 3
- rs144731446Conflicting interpretationssingle nucleotide variantSpheroid body myopathy|Myofibrillar Myopathy, Dominant|Myofibrillar myopathy 3|Limb-Girdle Muscular Dystrophy, Dominant|Myofibrillar myopathy 3|Spheroid body myopathy
- rs145427063Conflicting interpretationssingle nucleotide variantMyofibrillar myopathy 3
- rs150293853Conflicting interpretationssingle nucleotide variantSpheroid body myopathy|Limb-Girdle Muscular Dystrophy, Dominant|Myofibrillar Myopathy, Dominant|Myofibrillar myopathy 3
- rs121908457Pathogenicsingle nucleotide variantProgressive distal muscle weakness|Progressive proximal muscle weakness|8 conditions|Myofibrillar myopathy 3
- rs28937597Pathogenicsingle nucleotide variantMyofibrillar myopathy 3
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.