Variant: rs199473353 

    present in Gene: KCNE1
    present in Chromosome: 21
    Position on Chromosome: 34449496
    Alleles of this Variant: C/A;T

rs199473353 in KCNE1 gene and JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) PMID 10400998 1999 Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.

PMID 9328483 1997 IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.

PMID 21676880 2011 Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.

PMID 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.