ALG12 Chromosome 22
ALG12 alpha-1,6-mannosyltransferase
Upload your DNA to see your personal genotypes for variants in ALG12.
What This Gene Does
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]
Gene Info
Gene Group
Dolichyl D-mannosyl phosphate dependent mannosyltransferases
Locus Type
gene with protein product
Location
22q13.33
Ensembl
ENSG00000182858
Associated Conditions (5)
ALG12-congenital disorder of glycosylation
ALG12-related disorder
Inborn genetic diseases
Sarcoma
Hepatocellular carcinoma
Key Variants
RS113652023
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS117687848
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation
Health Risk
RS12163163
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS138266806
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, Inborn genetic diseases, Sarcoma
Health Risk
RS140835842
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation
Health Risk
RS142586266
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation
Health Risk
RS143508665
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS149209714
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, Inborn genetic diseases
Health Risk
RS149845730
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS150614794
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation
Health Risk
RS190345740
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
RS191669043
Conflicting classifications of pathogenicity
ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113652023 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS117687848 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation |
| RS12163163 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS138266806 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, Sarcoma |
| RS140835842 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation |
| RS142586266 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation |
| RS143508665 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS149209714 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-related disorder, Inborn genetic diseases |
| RS149845730 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS150614794 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation |
| RS190345740 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS191669043 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS2060570009 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation |
| RS371814322 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS375328311 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS375721419 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation |
| RS555600636 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS564172046 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Hepatocellular carcinoma, ALG12-congenital disorder of glycosylation |
| RS748227291 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation |
| RS749156618 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS755892540 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS760973218 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS763942380 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS76905919 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS772352960 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS776043296 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS777096831 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation |
| RS777719396 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS778040010 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS778413165 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation |
| RS778608834 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, Inborn genetic diseases, ALG12-congenital disorder of glycosylation |
| RS779215527 | Health Risk | Conflicting classifications of pathogenicity | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1057517895 | Health Risk | Likely pathogenic | — |
| RS121907933 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-related disorder, ALG12-congenital disorder of glycosylation |
| RS1328280874 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS188399257 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS2519269133 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS28942090 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS376314741 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS746988876 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS750091570 | Health Risk | Likely pathogenic | — |
| RS756534747 | Health Risk | Likely pathogenic | — |
| RS775856400 | Health Risk | Likely pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS121907934 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS121907935 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1404131978 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1569174722 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1569175699 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS1569175744 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |
| RS2146607840 | Health Risk | Pathogenic | ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation |