rs1057521250

This is a variant in the BPHL gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic★★★☆
7 submitters2 publications

Complex cortical dysplasia with other brain malformations 5; See cases

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About BPHL

This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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