rs1577101046
This variant is located in the ALG3 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout ALG3
This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
View all ALG3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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