Gene entry
EPM2A
EPM2A glucan phosphatase, laforin
- Chromosome
- 6
- Cytoband
- 6q24.3
- Variants (rsID)
- 52
EPM2A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q24.3). Its official name is “EPM2A glucan phosphatase, laforin”. The reference table lists 52 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs145030227Benignsingle nucleotide variantProgressive myoclonic epilepsy|Seizure
- rs147399860Conflicting interpretationssingle nucleotide variantSeizure|Progressive myoclonic epilepsy|Intellectual disability
- rs150452237Conflicting interpretationssingle nucleotide variantProgressive myoclonic epilepsy|Microcephaly|Severe global developmental delay|Cataract
- rs104893950Pathogenicsingle nucleotide variantLafora disease|Progressive myoclonic epilepsy
- rs137852917Pathogenicsingle nucleotide variantLafora disease
- rs137852916Uncertain significancesingle nucleotide variantLafora disease|Progressive myoclonic epilepsy
Other listed variants
- rs365515
- rs398060
- rs447818
- rs867056
- rs1415744
- rs1605806
- rs6910793
- rs9390320
- rs9399547
- rs9399559
- rs9403701
- rs9403708
- rs10457056
- rs11155431
- rs11751523
- rs12215687
- rs12524615
- rs12526956
- rs12664698
- rs13215574
- rs17075197
- rs34292537
- rs41285847
- rs56085237
- rs62433831
- rs62438167
- rs74754122
- rs75018213
- rs75052448
- rs76610341
- rs78208731
- rs78365048
- rs79406547
- rs79630810
- rs79813447
- rs80091589
- rs116950009
- rs116954615
- rs117610178
- rs117653130
- rs117840703
- rs118031846
- rs138889852
- rs146421462
- rs202227834
- rs372804311
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.