ALG3 Chromosome 3
ALG3 alpha-1,3- mannosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG3.
What This Gene Does
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]
Gene Info
Gene Group
Dolichyl D-mannosyl phosphate dependent mannosyltransferases
Locus Type
gene with protein product
Location
3q27.1
Ensembl
ENSG00000214160
Associated Conditions (4)
ALG3-congenital disorder of glycosylation
ALG3-related disorder
Congenital disorder of glycosylation
Inborn genetic diseases
Key Variants
RS1174962210
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS142901178
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS186946267
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS190571910
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-related disorder, ALG3-congenital disorder of glycosylation
Health Risk
RS200875721
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS2233466
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-related disorder, ALG3-congenital disorder of glycosylation
Health Risk
RS368253820
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS370434427
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS371534425
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS372141050
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS373046727
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
RS534288406
Conflicting classifications of pathogenicity
ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1174962210 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS142901178 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS186946267 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS190571910 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-related disorder, ALG3-congenital disorder of glycosylation |
| RS200875721 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS2233466 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-related disorder, ALG3-congenital disorder of glycosylation |
| RS368253820 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS370434427 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS371534425 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS372141050 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS373046727 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS534288406 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS568371168 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS753238253 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS763727038 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS778269575 | Health Risk | Conflicting classifications of pathogenicity | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1028791709 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1560164682 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1577105039 | Health Risk | Likely pathogenic | — |
| RS1718972826 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS1719068613 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1719083745 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS2108442073 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS367679074 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS748878963 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS757912697 | Health Risk | Likely pathogenic | — |
| RS762510540 | Health Risk | Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1023520147 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS119103238 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1553827968 | Health Risk | Pathogenic | Inborn genetic diseases, ALG3-congenital disorder of glycosylation, Inborn genetic diseases |
| RS1560161567 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1560162116 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1560166870 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS2473846363 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS2473859485 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS28940588 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS376927697 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS747953768 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS770044637 | Health Risk | Pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS119103236 | Health Risk | Pathogenic/Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS1287098925 | Health Risk | Pathogenic/Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS387906273 | Health Risk | Pathogenic/Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS546890576 | Health Risk | Pathogenic/Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |
| RS773271124 | Health Risk | Pathogenic/Likely pathogenic | ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation |