rs547647945

This variant is located in the GBGT1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

not specified

About GBGT1

This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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