rs1592226120

This variant is located in the DPAGT1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Congenital myasthenic syndrome 13;DPAGT1-congenital disorder of glycosylation

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About DPAGT1

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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