Gene: SCN4A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR One such substitution, methionine for valine at position 1592, has been associated with HyperPP with myotonia and cold sensitivity. 9131651

1997
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation BEFREE One such substitution, methionine for valine at position 1592, has been associated with HyperPP with myotonia and cold sensitivity. 9131651

1997
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR In addition, the close-by occurring substitution of valine for methionine at position 1592 known to cause hyperkalemic periodic paralysis was deduced for six families with the myotonic, non-dystrophic form of this disease. 8242056

1993
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation BEFREE In addition, the close-by occurring substitution of valine for methionine at position 1592 known to cause hyperkalemic periodic paralysis was deduced for six families with the myotonic, non-dystrophic form of this disease. 8242056

1993
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 1659668

1991
dbSNP: rs80338962
rs80338962
SCN4A
0.820 GeneticVariation UNIPROT Identification of a mutation in the gene causing hyperkalemic periodic paralysis. 1659948

1991
dbSNP: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 1659668

1991
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108

2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. 24682880

2014
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
C 0.800 CausalMutation CLINVAR In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. 22926674

2012
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. 22926674

2012
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878

2010
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878

2010
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs80338958
rs80338958
SCN4A
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. 19225109

2009
dbSNP: rs80338958
rs80338958
SCN4A
0.800 GeneticVariation UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800

2009
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
C 0.800 CausalMutation CLINVAR Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 19052238

2008
dbSNP: rs121908556
rs121908556
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.800 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008