rs776302959

This variant is located in the RIMBP2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About RIMBP2

Predicted to enable voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels and voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in neuromuscular synaptic transmission; regulation of calcium-dependent activation of synaptic vesicle fusion; and regulation of presynaptic membrane potential. Predicted to be located in plasma membrane and synapse. Predicted to be active in calyx of Held; glutamatergic synapse; and presynaptic active zone cytoplasmic component. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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