CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Limb-girdle muscular dystrophy type 2A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307995
rs1085307995
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 28915917 2017
dbSNP: rs1085307995
rs1085307995
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 GeneticVariation CLINVAR Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 28915917 2017
dbSNP: rs1085307995
rs1085307995
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
dbSNP: rs1085307995
rs1085307995
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 GeneticVariation CLINVAR Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system. 16627476 2006
dbSNP: rs1085307995
rs1085307995
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system. 16627476 2006