rs202112771
This is a splice region variant variant in the ALG8 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
3 submitters3 publicationsPolycystic liver disease 3 with or without kidney cysts
View on ClinVar →About ALG8
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
View all ALG8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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