rs201309428

This variant is located in the PLCD1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters

not specified; not provided

About PLCD1

This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all PLCD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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