KCNQ1 c.386+15378C>T

Variant ID: 11-2482092-C-T

NM_000218.2(KCNQ1):c.386+15378C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Fine-mapping and initial characterization of QT interval loci in African Americans.

Plos Genetics
Avery, Christy L CL; Sethupathy, Praveen P; Buyske, Steven S; He, Qianchuan Q; Lin, Dan-Yu DY; Arking, Dan E DE; Carty, Cara L CL; Duggan, David D; Fesinmeyer, Megan D MD; Hindorff, Lucia A LA; Jeff, Janina M JM; Klein, Liviu L; Patton, Kristen K KK; Peters, Ulrike U; Shohet, Ralph V RV; Sotoodehnia, Nona N; Young, Alicia M AM; Kooperberg, Charles C; Haiman, Christopher A CA; Mohlke, Karen L KL; Whitsel, Eric A EA; North, Kari E KE
Publication Date: 2012

Variant appearance in text: rs3864884
PubMed Link: 22912591
Variant Present in the following documents:
  • Main text
  • pgen.1002870.pdf
View BVdb publication page



Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

European Journal Of Human Genetics : Ejhg
Alders, Marielle M; Bliek, Jet J; vd Lip, Karin K; vd Bogaard, Ruud R; Mannens, Marcel M
Publication Date: 2009-04

Variant appearance in text: rs3864884
PubMed Link: 18854861
Variant Present in the following documents:
  • Main text
View BVdb publication page