rs367749546

This variant is located in the CLIC5 gene.

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ClinVar annotation

Conflicting Classifications

4 submitters1 publication

not provided; CLIC5-related disorder; not specified

About CLIC5

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all CLIC5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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