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: rs1057524468
rs1057524468
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999
dbSNP: rs1057524468
rs1057524468
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361 2005
dbSNP: rs1064793620
rs1064793620
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR
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 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 		A 0.700 GeneticVariation CLINVAR Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system. 16627476 2006
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Respiratory chain deficiency in nonmitochondrial disease. 27066545 2015
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071 1995
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160 1997
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Protein sequences encode safeguards against aggregation. 19156839 2009
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Screening of the CAPN3 gene in patients with possible LGMD2A. 16650086 2006
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 9642272 1998
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 9642272 1998
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. 10102422 1999
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273 2017
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Respiratory chain deficiency in nonmitochondrial disease. 27066545 2015
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. 8624690 1996
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Screening of the CAPN3 gene in patients with possible LGMD2A. 16650086 2006
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 15221789 2004