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EPHX2

Synonyms
ABHD20, CEH, SEH
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,940
Likely benign
1,537
Benign
845

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EPHX2 gene.

Phenotype class
Patients in 3billion (%)

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