Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A. 19077043

2009
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800

2009
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. 18690054

2008
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. 18166706

2008
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation BEFREE This case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica. 16801039

2006
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Cold extends electromyography distinction between ion channel mutations causing myotonia. 16786525

2006
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. 15790667

2005
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. 15318338

2004
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation BEFREE The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram. 12552059

2003
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation BEFREE A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. 12483017

2002
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. 10727489

2000
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. 10369308

1999
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation BEFREE C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data. 9196904

1997
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). 8580427

1995
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation BEFREE Our results suggest that the R1448C/R1448H mutations are by far the most common to be associated with the PC phenotype in the German population. 8005599

1994
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. 8388676

1993
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722

1993
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 1310898

1992
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 1338909

1992
dbSNP: rs121908544
rs121908544
SCN4A
A 0.850 CausalMutation CLINVAR

dbSNP: rs80338957
rs80338957
SCN4A
0.840 GeneticVariation BEFREE The first proband and part of his family with the overlap of PMC and hyperkalemic periodic paralysis (HyperPP) has been identified as c.2111C > T (T704M) substitution of the gene SCN4A. 30931713

2019
dbSNP: rs80338957
rs80338957
SCN4A
0.840 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010