rs759542218
This is a variant in the DPAGT1 gene that changes a histidine to an tyrosine.
▶ClinVar annotation
Pathogenic★☆☆☆
1 submitterAbout 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]
View all DPAGT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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