Variant (rsID / SNP)

rs104893950

rs104893950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPM2A. Location: chromosome 6, position 145,948,827. Clinical significance in the table: Pathogenic.

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Reference-table entries

EPM2APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:145948827
Cytoband: 6q24.3
HGVS: NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
Allele change: Nonsense_R103X

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.