rs727502806

This is a variant in the STX1B gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Generalized epilepsy with febrile seizures plus, type 9 (GEFSP9)

About STX1B

The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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