rs2534497828

This variant is located in the ANLN gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

not provided; Focal segmental glomerulosclerosis 8

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About ANLN

This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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