rs776115769

This variant is located in the SYNJ1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Developmental and epileptic encephalopathy, 53;Early-onset Parkinson disease 20

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About SYNJ1

This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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