rs367799271

This variant is located in the PLD1 gene.

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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

not provided; Cardiac valvular defect, developmental

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About PLD1

This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]

View all PLD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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