rs751146291
This variant is located in the B3GLCT gene.
▶ClinVar annotation
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]
View all B3GLCT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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