DAG1 Chromosome 3

Dystroglycan 1
72 variants 72 Health Risk

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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
RS886042761 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
RS886042920 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
RS886043253 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
RS886044253 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
RS894752417 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
RS1131691506 Health Risk Likely pathogenic —
RS1553648360 Health Risk Likely pathogenic —
RS1553652513 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS1553652751 Health Risk Likely pathogenic —
RS1553653948 Health Risk Likely pathogenic —
RS1575410562 Health Risk Likely pathogenic —
RS2107929323 Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS2472165392 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Autosomal recessive limb-girdle muscular dystrophy type 2P
RS2472606199 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Autosomal recessive limb-girdle muscular dystrophy type 2P
RS886044452 Health Risk Likely pathogenic —
RS1064793360 Health Risk Pathogenic —
RS1334656238 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P
RS1553652503 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS2050744878 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS2051320206 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS2131107 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Autosomal recessive limb-girdle muscular dystrophy type 2P
RS869320680 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
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