present in Gene: KCNQ1
present in Chromosome: 11
Position on Chromosome: 2445213
Alleles of this Variant: G/T
rs1554958045 in
KCNQ1 gene and
Jervell And Lange-Nielsen Syndrome 1
PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
rs1554958045 in
KCNQ1 gene and
Prolonged QT interval
PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
rs1554958045 in
KCNQ1 gene and
hearing impairment
PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.