rs1213992277
This variant is located in the ALG6 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationALG6-congenital disorder of glycosylation 1C
View on ClinVar →About ALG6
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
View all ALG6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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