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: rs868791726
rs868791726
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 28403181 2017
dbSNP: rs868791726
rs868791726
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 26060040 2016
dbSNP: rs868791726
rs868791726
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. 25987458 2015
dbSNP: rs868791726
rs868791726
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 27066551 2015
dbSNP: rs868791726
rs868791726
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR [Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A]. 20517216 2010
dbSNP: rs868791726
rs868791726
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR CAPN3 mutations in patients with idiopathic eosinophilic myositis. 16607617 2006
dbSNP: rs868791726
rs868791726
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 GeneticVariation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071 1995