rs2052587591

This variant is located in the CAPN3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Autosomal recessive limb-girdle muscular dystrophy type 2A

About CAPN3

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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