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KCNQ1 c.1096_1097delinsTA ;(p.R366*)
Variant ID: 11-2606505-CG-TA
NM_000218.2(
KCNQ1
):c.1096_1097delinsTA;(p.R366*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022
Variant appearance in text: LQT1: R366X
PubMed Link:
35647048
Variant Present in the following documents:
fcvm-09-889519.pdf
View BVdb publication page
Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.
Stem Cells (Dayton, Ohio)
van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2020-02
Variant appearance in text: LQT1: R366X
PubMed Link:
31664757
Variant Present in the following documents:
STEM-38-174-s001.pdf
View BVdb publication page