present in Gene: KCNE1
present in Chromosome: 21
Position on Chromosome: 34449261
Alleles of this Variant: G/A
rs142511345 in
KCNE1 gene and
LONG QT SYNDROME 5
PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
PMID 25037568 2014 Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
PMID 9445165 1998 Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
PMID 9354802 1997 Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
PMID 10400998 1999 Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
PMID 11692163 2001 A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.