A Manually Curated Knowledgebase of Aging across a variety of Species

Details


Name NA
Type somatic mutation
Species Homo sapiens
Tissue blood samples
Experiment Method qPCR
Up/Down NA
Pro/Anti Pro
Funtion Description We investigated whether this KCNQ1 missense mutation could form the genetic basis for AF and bradycardia simultaneously in this family. Sanger sequencing in a family with hereditary persistent AF identified a novel KCNQ1 variant (V241F) in a highly conser
Regulation Gene KCNQ1
Year 2014
Pubmed ID 23989646
Title A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation
Drug NA
Disease age-dependant bradycardia;persistent atrial fibrillation
Environment Factors NA
Circulating 1
Variant somatic mutation
High-throughput NA