rs970621102
This variant is located in the DAG1 gene.
▶ClinVar annotation
Autosomal recessive limb-girdle muscular dystrophy type 2P;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
View on ClinVar →About DAG1
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]
View all DAG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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