rs41507953

This is a variant in the EPHX2 gene that changes a lysine to an arginine.

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ClinVar annotation

Benign

1 submitter

EPHX2-related disorder

About EPHX2

This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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