KCNQ1 Variant Browser

Here we have a comprehensive list of variants in KCNQ1 found in individuals affected and unaffected with the disease most commonly associated with variants in KCNQ1, congenital long QT type 1 (LQT1; OMIM: 192500). Coding variants are referenced to isoform P51787 (ENST00000155840.12) to match convention. 'Total Carriers' is the number of heterozygotes diagnosed with LQT1 or other disease, Unaffected with disease, and found in the genome aggregation database (gnomAD). 'Other' is the number of heterozygoes diagnosed with a cardiac disease which is not LQT1. Click the variant link for more details. Below are histogram plots for LQT2 affected carriers, unaffected carriers, and estimated LQTS penetrance. Use the 'Search Builder' and 'Search Panes' to select subsets of variants based on properties you are interested in (results will update the histogram plots below). 'GOF' and 'LOF' indicate gain-of-function and loss-of-function, respectively.