rs192746231

This variant is located in the PLD3 gene.

ClinVar annotation

Uncertain Significance★★★
2 submitters1 publication

not provided; not specified

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About PLD3

This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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