rs2544424932
This variant is located in the FSCN2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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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