rs752922461
This is a stop gained variant in the ALG1 gene.
▶ClinVar annotation
Pathogenic★☆☆☆
3 submitters3 publicationsALG1-congenital disorder of glycosylation; Congenital disorder of glycosylation (CDG)
View on ClinVar →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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