Variant (rsID / SNP)

rs137852916

rs137852916 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPM2A. Location: chromosome 6, position 145,956,587. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EPM2AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:145956587
Cytoband: 6q24.3
HGVS: NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
Allele change: Missense_R33H

Associated conditions / phenotypes

Lafora disease|Progressive myoclonic epilepsy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.