rs748050195
This variant is located in the ANLN gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout 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]
View all ANLN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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