Gene entry
MEF2C
myocyte enhancer factor 2C
- Chromosome
- 5
- Cytoband
- 5q14.3
- Variants (rsID)
- 28
MEF2C is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q14.3). Its official name is “myocyte enhancer factor 2C”. The reference table lists 28 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs186648089Benignsingle nucleotide variantIntellectual disability, autosomal dominant 20
- rs371238107Benignsingle nucleotide variant
- rs563149132Benignsingle nucleotide variantIntellectual disability, autosomal dominant 20
- rs376439815Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 20
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.