rs762715982

This variant is located in the FBF1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About FBF1

Involved in apical junction assembly and establishment of epithelial cell polarity. Acts upstream of or within cilium assembly. Located in apical junction complex and cytoskeleton. Part of ciliary transition fiber. [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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