rs153732

This variant is located in the PRICKLE2 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Progressive myoclonic epilepsy; not provided

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About PRICKLE2

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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