rs767455250

This variant is located in the ALG1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

not provided; ALG1-congenital disorder of glycosylation; Inborn genetic diseases

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About ALG1

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

View all ALG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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