rs1724342112

This variant is located in the PIK3CA gene.

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ClinVar annotation

Pathogenic★★★☆

7 submitters10 publications

not provided; PIK3CA-related disorder; Neoplasm; PIK3CA related overgrowth syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

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About PIK3CA

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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