rs118113605

This variant is located in the CADPS2 gene.

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ClinVar annotation

Likely Benign

1 submitter

CADPS2-related disorder

About CADPS2

This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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