rs200258773

This variant is located in the FSCN2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; Meniere disease; not specified

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About FSCN2

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all FSCN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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