CFL2, cofilin 2, 1073

N. diseases: 73; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358250
rs80358250
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C1853154
Disease:
Nemaline Myopathy 7 		0.800 GeneticVariation UNIPROT Congenital myopathy caused by a novel missense mutation in the CFL2 gene. 22560515 2012
dbSNP: rs80358250
rs80358250
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C1853154
Disease:
Nemaline Myopathy 7 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: nemaline myopathy. 22510848 2012
dbSNP: rs80358250
rs80358250
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C1853154
Disease:
Nemaline Myopathy 7 		0.800 GeneticVariation UNIPROT Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. 17160903 2007
dbSNP: rs80358250
rs80358250
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C1853154
Disease:
Nemaline Myopathy 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397515451
rs397515451
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C1853154
Disease:
Nemaline Myopathy 7 		0.700 GeneticVariation UNIPROT Clinical utility gene card for: nemaline myopathy. 22510848 2012
dbSNP: rs397515451
rs397515451
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C1853154
Disease:
Nemaline Myopathy 7 		0.700 GeneticVariation UNIPROT Congenital myopathy caused by a novel missense mutation in the CFL2 gene. 22560515 2012
dbSNP: rs397515451
rs397515451
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C1853154
Disease:
Nemaline Myopathy 7 		0.700 GeneticVariation UNIPROT Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. 17160903 2007
dbSNP: rs80358250
rs80358250
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
CUI: C0206157
Disease:
Myopathies, Nemaline 		T 0.700 CausalMutation CLINVAR