Variant: rs121908553 

    present in Gene: SCN4A
    present in Chromosome: 17
    Position on Chromosome: 63941957
    Alleles of this Variant: A/T

rs121908553 in SCN4A gene and MYASTHENIC SYNDROME, CONGENITAL, 16 PMID 26659129 2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

PMID 12766226 2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

PMID 25707578 2015 Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

rs121908553 in SCN4A gene and Myasthenic Syndromes, Congenital PMID 12766226 2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.