DPAGT1 Chromosome 11
Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
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What This Gene Does
The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
Associated Conditions (9)
Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Inborn genetic diseases
Adrenocortical carcinoma
hereditary
DPAGT1-related disorder
Congenital disorder of glycosylation
Myopathy with tubular aggregates
Abnormality of metabolism/homeostasis
Key Variants
RS112355069
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Inborn genetic diseases
Health Risk
RS1131691904
Conflicting classifications of pathogenicity
DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation
Health Risk
RS1156424752
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13
Health Risk
RS1301940016
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Inborn genetic diseases
Health Risk
RS138519099
Conflicting classifications of pathogenicity
DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
Health Risk
RS138544311
Conflicting classifications of pathogenicity
DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-related disorder
Health Risk
RS1393162163
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
Health Risk
RS146610900
Conflicting classifications of pathogenicity
DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
Health Risk
RS1592225374
Conflicting classifications of pathogenicity
DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
Health Risk
RS199873583
Conflicting classifications of pathogenicity
DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, Inborn genetic diseases
Health Risk
RS199994118
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, DPAGT1-related disorder
Health Risk
RS201656540
Conflicting classifications of pathogenicity
DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112355069 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Inborn genetic diseases |
| RS1131691904 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation |
| RS1156424752 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13 |
| RS1301940016 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Inborn genetic diseases |
| RS138519099 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS138544311 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-related disorder |
| RS1393162163 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |
| RS146610900 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS1592225374 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS199873583 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, Inborn genetic diseases |
| RS199994118 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, DPAGT1-related disorder |
| RS201656540 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS28934876 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, Congenital disorder of glycosylation |
| RS377263230 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-related disorder |
| RS397515328 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS62641715 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS745872044 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS746187785 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS746355462 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS762796464 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS768464558 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS772133269 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS772988029 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |
| RS774754436 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |
| RS779048359 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS863225088 | Health Risk | Conflicting classifications of pathogenicity | DPAGT1-congenital disorder of glycosylation, Congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation |
| RS1210999092 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS1403123573 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13 |
| RS1450090350 | Health Risk | Likely pathogenic | DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation |
| RS1946406410 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS1946485389 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13 |
| RS1946508324 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS1946512581 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS2134898234 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13 |
| RS2134903748 | Health Risk | Likely pathogenic | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS2134910617 | Health Risk | Likely pathogenic | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS2497501143 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |
| RS2497528475 | Health Risk | Likely pathogenic | DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation |
| RS387907243 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |
| RS759542218 | Health Risk | Likely pathogenic | — |
| RS777142166 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS1315559074 | Health Risk | Pathogenic | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS1555207826 | Health Risk | Pathogenic | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |
| RS2134901573 | Health Risk | Pathogenic | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS2134919748 | Health Risk | Pathogenic | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS2497529439 | Health Risk | Pathogenic | DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation |
| RS387907244 | Health Risk | Pathogenic | Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13 |
| RS387907245 | Health Risk | Pathogenic | Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13 |
| RS397514586 | Health Risk | Pathogenic | DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation |
| RS397515321 | Health Risk | Pathogenic | Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13 |