rs749951518

This variant is located in the CLSTN3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CLSTN3

Enables cell-cell adhesion mediator activity and neurexin family protein binding activity. Involved in L-ascorbic acid metabolic process and regulation of synapse assembly. Predicted to be located in several cellular components, including Golgi membrane; dendrite; and postsynaptic density. Predicted to be part of protein-containing complex. Predicted to be active in several cellular components, including GABA-ergic synapse; lipid droplet; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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