rs79632513

This variant is located in the PKD1L2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PKD1L2

This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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