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

1994
dbSNP: rs121908547
rs121908547
SCN4A
A 0.700 CausalMutation CLINVAR Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. 8044656

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

1994
dbSNP: rs80338792
rs80338792
SCN4A
T 0.700 CausalMutation CLINVAR Myotonia fluctuans. A third type of muscle sodium channel disease. 7980103

1994
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. 8044656

1994
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Myotonia fluctuans. A third type of muscle sodium channel disease. 7980103

1994
dbSNP: rs80338792
rs80338792
SCN4A
G 0.700 CausalMutation CLINVAR Myotonia fluctuans. A third type of muscle sodium channel disease. 7980103

1994
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: rs121908551
rs121908551
SCN4A
T 0.700 CausalMutation CLINVAR Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). 8580427

1995
dbSNP: rs80338792
rs80338792
SCN4A
G 0.700 CausalMutation CLINVAR Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. 7473241

1995
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. 7473241

1995
dbSNP: rs80338792
rs80338792
SCN4A
T 0.700 CausalMutation CLINVAR Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. 7473241

1995
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
G 0.710 CausalMutation CLINVAR Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. 8902732

1996
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. 8619545

1996
dbSNP: rs121908547
rs121908547
SCN4A
A 0.700 CausalMutation CLINVAR Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line. 8910215

1996
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: rs121908552
rs121908552
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR A novel muscle sodium channel mutation causes painful congenital myotonia. 9392583

1997
dbSNP: rs80338959
rs80338959
SCN4A
C 0.700 CausalMutation CLINVAR A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. 9339683

1997
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
G 0.710 CausalMutation CLINVAR Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line. 9508833

1998
dbSNP: rs121908548
rs121908548
SCN4A
T 0.700 CausalMutation CLINVAR Familial cramp due to potassium-aggravated myotonia. 9771789

1998
dbSNP: rs121908551
rs121908551
SCN4A
T 0.700 CausalMutation CLINVAR Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I. 9660885

1998
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR These results, showing that the I1495F and T704M hyperkalaemic periodic paralysis mutations both have profound effects on channel activation and fast-slow inactivation, suggest that the S5 segment maybe in a location where fast and slow inactivation converge. 10366610

1999
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: rs121908552
rs121908552
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. 10218481

1999