Variant (rsID / SNP)

rs137852917

rs137852917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPM2A. Location: chromosome 6, position 145,948,713. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EPM2APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:145948713
Cytoband: 6q24.3
HGVS: NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
Allele change: Missense_G141S

Associated conditions / phenotypes

Lafora disease

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.