rs569540121

This variant is located in the B3GLCT gene.

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ClinVar annotation

Conflicting Classifications
4 submitters2 publications

not specified; Peters plus syndrome; B3GLCT-related disorder

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About B3GLCT

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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