rs1847117405

This variant is located in the JRK gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About JRK

This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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