rs1805018

This is a variant in the PLA2G7 gene that changes a isoleucine to an threonine.

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ClinVar annotation

Benign
2 submitters1 publication

PLA2G7-related disorder; RECLASSIFIED - PLA2G7 POLYMORPHISM

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About PLA2G7

The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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