Variant (rsID / SNP)

rs145030227

rs145030227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPM2A. Location: chromosome 6, position 145,948,833. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EPM2ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:145948833
Cytoband: 6q24.3
HGVS: NM_005670.4(EPM2A):c.719-4G>A
Allele change: Silent

Associated conditions / phenotypes

Progressive myoclonic epilepsy|Seizure

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.