KCNQ1 c.796del ;(p.L266Cfs*23)

Variant ID: 11-2594088-AC-A

NM_000218.2(KCNQ1):c.796del;(p.L266Cfs*23)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 796del; Leu266Cysfs*23
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Circulation. Genomic And Precision Medicine
Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,
Publication Date: 2021-08

Variant appearance in text: KCNQ1: 796delC
PubMed Link: 34319147
Variant Present in the following documents:
  • hcg-14-e003300-s001.pdf
View BVdb publication page



Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Journal Of Cardiovascular Translational Research
Ware, James S JS; John, Shibu S; Roberts, Angharad M AM; Buchan, Rachel R; Gong, Sungsam S; Peters, Nicholas S NS; Robinson, David O DO; Lucassen, Anneke A; Behr, Elijah R ER; Cook, Stuart A SA
Publication Date: 2013-02

Variant appearance in text: KCNQ1: 796delC
PubMed Link: 22956155
Variant Present in the following documents:
  • Main text
  • 12265_2012_Article_9401.pdf
View BVdb publication page