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Variant (rsID / SNP)

rs147399860

EPM2A

rs147399860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPM2A. Location: chromosome 6, position 145,956,419. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EPM2AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:145956419
Cytoband
6q24.3
HGVS
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
Allele change
Missense_A89V

Associated conditions / phenotypes

Seizure|Progressive myoclonic epilepsy|Intellectual disability

Public references

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