rs750823503

This variant is located in the SYNE2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Emery-Dreifuss muscular dystrophy 5, autosomal dominant

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About SYNE2

The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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