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: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704 2017
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200 2016
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Transcriptional and translational effects of intronic CAPN3 gene mutations. 20635405 2010
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. 17157502 2007
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. 16372320 2006
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 16141003 2005
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis. 16100770 2005
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 15221789 2004
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. 15351423 2004
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR This pattern was also seen in one patient with early stage LGMD2A who had a P82L missense mutation and a partial deficiency of calpain 3 in the muscle, but was not seen in early stage patients affected by other forms of LGMD. 12890817 2003
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.710 GeneticVariation BEFREE This pattern was also seen in one patient with early stage LGMD2A who had a P82L missense mutation and a partial deficiency of calpain 3 in the muscle, but was not seen in early stage patients affected by other forms of LGMD. 12890817 2003
dbSNP: rs886042478
rs886042478
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.710 GeneticVariation CLINVAR Clinical variability in calpainopathy: what makes the difference? 12461690 2002