rs121907935

This is a synonymous variant in the ALG12 gene — it does not change the protein's amino acid sequence.

▶

ClinVar annotation

Likely Benign★☆☆☆
1 submitter2 publications

ALG12-congenital disorder of glycosylation (CDG1G)

View on ClinVar →

About ALG12

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

View all ALG12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…