B4GAT1 Chromosome 11
Beta-1,4-glucuronyltransferase 1
Upload your DNA to see your personal genotypes for variants in B4GAT1.
What This Gene Does
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A13
Inborn genetic diseases
B4GAT1-related disorder
type A1
Key Variants
RS143223962
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS1555016387
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS201892419
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS35429253
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Inborn genetic diseases
Health Risk
RS529539963
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Inborn genetic diseases
Health Risk
RS765114036
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, B4GAT1-related disorder
Health Risk
RS1555016276
Likely pathogenic
Health Risk
RS397509396
Likely pathogenic
Health Risk
RS397509397
Likely pathogenic
Health Risk
RS2495384629
Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS921785357
Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Health Risk
RS730882237
Pathogenic/Likely pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, type A13
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143223962 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1555016387 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS201892419 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS35429253 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Inborn genetic diseases |
| RS529539963 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Inborn genetic diseases |
| RS765114036 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, B4GAT1-related disorder |
| RS1555016276 | Health Risk | Likely pathogenic | — |
| RS397509396 | Health Risk | Likely pathogenic | — |
| RS397509397 | Health Risk | Likely pathogenic | — |
| RS2495384629 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS921785357 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS730882237 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, type A13 |