rs139330011

This variant is located in the TRPC6 gene.

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ClinVar annotation

Conflicting Classifications

4 submitters2 publications

Focal segmental glomerulosclerosis 2; not provided; TRPC6-related disorder; Inborn genetic diseases

About TRPC6

The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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