rs2549346398

This variant is located in the SEPTIN2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SEPTIN2

Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; cytoskeleton-dependent cytokinesis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [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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