rs1032354399

This variant is located in the FRMD4A gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About FRMD4A

This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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