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PKD1L3

Synonyms
-
External resources
Summary
This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
24,915
Likely benign
8,821
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PKD1L3 gene.

Phenotype class
Patients in 3billion (%)

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