rs773672059

This variant is located in the ALG13 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Developmental and epileptic encephalopathy, 36

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About ALG13

The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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