rs763383692

This variant is located in the C1GALT1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About C1GALT1

The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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