rs531890221

This variant is located in the GFPT1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Congenital myasthenic syndrome 12

About GFPT1

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

View all GFPT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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