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: rs1275289254
rs1275289254
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398 2016
dbSNP: rs1275289254
rs1275289254
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 CausalMutation CLINVAR Transcriptional and translational effects of intronic CAPN3 gene mutations. 20635405 2010
dbSNP: rs1275289254
rs1275289254
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling. 17258832 2007
dbSNP: rs1275289254
rs1275289254
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 CausalMutation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361 2005
dbSNP: rs1275289254
rs1275289254
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 CausalMutation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999