rs1879292660

This variant is located in the SYT1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Inborn genetic diseases

About SYT1

This gene encodes a member of the synaptotagmin protein family. The synaptotagmins are integral membrane proteins of synaptic vesicles that serve as calcium sensors in the process of vesicular trafficking and exocytosis. The encoded protein participates in triggering neurotransmitter release at the synapse in response to calcium binding. Mutations in this gene are associated with Baker-Gordon syndrome. [provided by RefSeq, Jan 2023]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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