ALG1 Chromosome 16
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG1.
What This Gene Does
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Glycosyl transferases group 1 domain containing
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000033011
Associated Conditions (8)
ALG1-congenital disorder of glycosylation
Congenital disorder of glycosylation
Inborn genetic diseases
ALG1-related disorder
Finnish congenital nephrotic syndrome
Encephalopathy
ALG12-congenital disorder of glycosylation
Congenital disorder of glycosylation type I
Key Variants
RS1057520122
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
Health Risk
RS1261895166
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
Health Risk
RS1373315673
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, Inborn genetic diseases, ALG1-congenital disorder of glycosylation
Health Risk
RS1436106795
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
Health Risk
RS143676440
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
Health Risk
RS145158686
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
Health Risk
RS145317306
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, Inborn genetic diseases, ALG1-related disorder
Health Risk
RS147412842
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, ALG1-related disorder, Inborn genetic diseases
Health Risk
RS148611855
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
Health Risk
RS148933850
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, Inborn genetic diseases, ALG1-congenital disorder of glycosylation
Health Risk
RS150272167
Conflicting classifications of pathogenicity
ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
Health Risk
RS1596259672
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505868653 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS375670899 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS387906927 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS752922461 | Health Risk | Pathogenic | Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS753904901 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS756236917 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS757512219 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS758259853 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS771153009 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS776264264 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS889550402 | Health Risk | Pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS1372794201 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS1474783444 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS151173406 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS1596261268 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS1957009416 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS267606651 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, Inborn genetic diseases, ALG1-congenital disorder of glycosylation |
| RS28939378 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, Inborn genetic diseases, Congenital disorder of glycosylation |
| RS369160589 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation, Encephalopathy |
| RS374928784 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS398124348 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS553396382 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS746019074 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS750451819 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS763496595 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS776990436 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, ALG1-related disorder, ALG1-congenital disorder of glycosylation |
| RS780107088 | Health Risk | Pathogenic/Likely pathogenic | ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation |
| RS794727073 | Health Risk | Pathogenic/Likely pathogenic | Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation |