Variant: rs867587467 

    present in Gene: SCN4A
    present in Chromosome: 17
    Position on Chromosome: 63971173
    Alleles of this Variant: G/A

rs867587467 in SCN4A gene and Muscle hypotonia PMID 15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

PMID 26700687 2016 Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

PMID 10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

PMID 25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.

PMID 26427606 2015 SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

PMID 26484179 2015 Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.

PMID 19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.