DAG1 Chromosome 3
Dystroglycan 1
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What This Gene Does
This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
Associated Conditions (11)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A9
Autosomal recessive limb-girdle muscular dystrophy type 2P
Inborn genetic diseases
DAG1-related disorder
Cervical cancer
Elevated circulating creatine kinase concentration
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Key Variants
RS138386617
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P
Health Risk
RS139781017
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Health Risk
RS140204495
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Health Risk
RS1405959055
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P
Health Risk
RS143763229
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P
Health Risk
RS143829263
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Health Risk
RS145165301
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P
Health Risk
RS145403829
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P
Health Risk
RS146157416
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Health Risk
RS146453412
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Health Risk
RS147153370
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Health Risk
RS148759919
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138386617 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS139781017 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS140204495 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS1405959055 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS143763229 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS143829263 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS145165301 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS145403829 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS146157416 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS146453412 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS147153370 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS148759919 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS149218670 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS150727558 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS1553652562 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS1553653579 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS1553653673 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS1575410881 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS199728911 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS199894361 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS201280782 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS201713621 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS2107935604 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS2107952051 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS2229010 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS368359780 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS374490206 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS375071274 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS543326525 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS551679833 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS555051245 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS577609846 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS746978083 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS748164001 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS749427996 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS749602970 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS752441031 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS752506833 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS758254304 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS762334457 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS762428862 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS763343344 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS764289801 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS767737417 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS773066265 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS773172058 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
| RS775928044 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS780120566 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS794727500 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |
| RS797045023 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P |