Gene entry
DAG1
dystroglycan 1
- Chromosome
- 3
- Cytoband
- 3p21.31
- Variants (rsID)
- 14
DAG1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “dystroglycan 1”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs116717961Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2P|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- rs117209107Benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2P|Autosomal recessive limb-girdle muscular dystrophy type 2P|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- rs41290704Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9|Autosomal recessive limb-girdle muscular dystrophy type 2P
- rs143763229Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2P|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- rs145403829Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9|Autosomal recessive limb-girdle muscular dystrophy type 2P|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- rs794727500Conflicting interpretationssingle nucleotide variant
- rs113904914Likely benignsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2P|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- rs148759919Uncertain significancesingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2P|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
- rs4625Not classifiedsingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
