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Variant (rsID / SNP)

rs150452237

EPM2A

rs150452237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPM2A. Location: chromosome 6, position 146,007,358. 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
6:146007358
Cytoband
6q24.3
HGVS
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
Allele change
Silent

Associated conditions / phenotypes

Progressive myoclonic epilepsy|Microcephaly|Severe global developmental delay|Cataract

Public references

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