CAPN3

calpain 3

Summary

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]

Known Variants1,375 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2836436115:42,651,363A/G—likely benign
rs2836436215:42,651,390C/T—likely benign
rs1697317415:42,651,596T/C—benign
rs2836436315:42,651,682C/A—benign
rs88605114715:42,651,704C/G—uncertain significance
rs11388183415:42,651,873G/T—uncertain significance
rs14969868115:42,651,900G/C—conflicting classifications of pathogenicity
rs205258759115:42,651,908A/T—uncertain significance
rs140552343215:42,651,979G/C—likely benign
rs156696579615:42,652,004A/G—pathogenic
rs155541725715:42,652,005T/C—likely pathogenic
rs254822442315:42,652,006G/T—pathogenic
rs37391925215:42,652,008C/G—uncertain significance
rs11748033315:42,652,009G/A—likely benign
rs76123871915:42,652,010A/G—uncertain significance
rs79621883715:42,652,012C/T—likely benign
rs14066006615:42,652,013G/A—uncertain significance
rs75579955915:42,652,015C/T—likely benign
rs126590924215:42,652,016A/G—uncertain significance
rs14472250215:42,652,021C/T—likely benign
rs77682743215:42,652,022G/C—uncertain significance
rs74895295615:42,652,027T/C—likely benign
rs205259037315:42,652,028G/C—uncertain significance
rs254822450115:42,652,042A/G—likely benign
rs77126368815:42,652,044C/T—uncertain significance
rs57444307215:42,652,045G/A—likely benign
rs77258008115:42,652,049G/A—conflicting classifications of pathogenicity
rs77574286615:42,652,050A/C—conflicting classifications of pathogenicity
rs254822453015:42,652,052C/T—uncertain significance
rs139256583215:42,652,054C/T—likely benign
rs76424786515:42,652,055C/T—uncertain significance
rs137569140715:42,652,056G/A—uncertain significance
rs254822455315:42,652,057G/C—likely benign
rs88604307015:42,652,064G/T—uncertain significance
rs2836436415:42,652,065G/A—conflicting classifications of pathogenicity
rs205259187915:42,652,066G/A—likely benign
rs254822461315:42,652,069A/G—likely benign
rs75131276515:42,652,070G/C—uncertain significance
rs6173553415:42,652,076C/T—benign
rs254822464515:42,652,078C/T—likely benign
rs76202051215:42,652,080C/T—uncertain significance
rs6264251915:42,652,081G/A—likely benign
rs129683746715:42,652,090C/G—uncertain significance
rs180149615:42,652,099T/C—likely benign
rs19954925715:42,652,100G/A—uncertain significance
rs77253430215:42,652,103G/A—uncertain significance
rs205259368015:42,652,104C/G—uncertain significance
rs214110229315:42,652,107G/C—uncertain significance
rs205259387515:42,652,108G/A—likely benign
rs76892575515:42,652,110G/C—uncertain significance
rs77670912215:42,652,111T/A—likely benign
rs14953669615:42,652,114A/G—likely benign
rs77001299115:42,652,117C/T—likely benign
rs214110234015:42,652,123T/C—likely benign
rs139898303715:42,652,129C/T—likely benign
rs77404874315:42,652,136G/Amissense variantpathogenic
rs254822478215:42,652,137C/T—conflicting classifications of pathogenicity
rs156696594415:42,652,144C/T—likely benign
rs76728199615:42,652,146G/A—conflicting classifications of pathogenicity
rs79472687115:42,652,148C/T—pathogenic
rs86322495815:42,652,149G/Amissense variantpathogenic
rs126258774915:42,652,152A/G—likely pathogenic
rs254822482815:42,652,154T/C—uncertain significance
rs14413877515:42,652,160A/G—uncertain significance
rs156696597015:42,652,162T/C—likely benign
rs205259615515:42,652,163A/G—uncertain significance
rs52777674515:42,652,165C/T—likely benign
rs75333823515:42,652,166G/A—uncertain significance
rs77866772815:42,652,172A/G—uncertain significance
rs75002260015:42,652,175G/A—uncertain significance
rs254822489515:42,652,177G/A—likely benign
rs14606993315:42,652,186C/T—conflicting classifications of pathogenicity
rs37042257615:42,652,187G/A—uncertain significance
rs214110258015:42,652,192A/G—likely benign
rs89801338815:42,652,196C/G—uncertain significance
rs205259723215:42,652,199A/C—uncertain significance
rs140831577015:42,652,204A/G—likely benign
rs214110262215:42,652,205T/C—uncertain significance
rs254822497115:42,652,213A/G—likely benign
rs159579426515:42,652,214A/G—uncertain significance
rs55185060015:42,652,225T/G—likely benign
rs155541732315:42,652,227A/G—uncertain significance
rs254822501015:42,652,228T/A—likely pathogenic
rs92991656915:42,652,229G/C—uncertain significance
rs214110270315:42,652,232G/A—uncertain significance
rs13886709915:42,652,235C/A—conflicting classifications of pathogenicity
rs155541732815:42,652,238G/C—uncertain significance
rs76020527715:42,652,240——pathogenic
rs254822503715:42,652,241T/G—uncertain significance
rs88604280015:42,652,242T/C—uncertain significance
rs205259873715:42,652,243C/G—conflicting classifications of pathogenicity
rs142113068715:42,652,246A/G—likely benign
rs88604247815:42,652,248C/Tmissense variantpathogenic
rs14652943215:42,652,249G/A—likely benign
rs77353612715:42,652,258C/T—likely benign
rs12143454615:42,652,260C/Tmissense variantpathogenic
rs214110279015:42,652,261T/C—likely benign
rs55892549315:42,652,262C/G—uncertain significance
rs76062691215:42,652,267T/G—conflicting classifications of pathogenicity
rs205259999915:42,652,269A/G—uncertain significance

Showing 100 of 1,375 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.