Gene: SCN4A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. 8005599

1994
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia. 21490317

2011
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation. 16801039

2006
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. 8110459

1994
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908544
rs121908544
SCN4A
T 0.700 CausalMutation CLINVAR Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. 10381583

1999
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. 8110459

1994
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. 8005599

1994
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. 18166706

2008
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. 7676326

1995
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. 18337730

2008
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V. 12562902

2003
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. 8619545

1996
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. 8005599

1994
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents. 20038812

2010
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation. 16801039

2006
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. 18337730

2008
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 27415035

2017
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. 8110459

1994
dbSNP: rs121908547
rs121908547
SCN4A
A 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994