rs2058309986
This variant is located in the PYGM gene.
▶ClinVar annotation
About PYGM
This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
View all PYGM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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