rs1171334770

This variant is located in the ALG3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

ALG3-congenital disorder of glycosylation

About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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