KCNQ1 c.1394-1559A>C

Variant ID: 11-2681632-A-C

NM_000218.2(KCNQ1):c.1394-1559A>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12573965
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes.

Plos One
Rankinen, Tuomo T; Fuku, Noriyuki N; Wolfarth, Bernd B; Wang, Guan G; Sarzynski, Mark A MA; Alexeev, Dmitry G DG; Ahmetov, Ildus I II; Boulay, Marcel R MR; Cieszczyk, Pawel P; Eynon, Nir N; Filipenko, Maxim L ML; Garton, Fleur C FC; Generozov, Edward V EV; Govorun, Vadim M VM; Houweling, Peter J PJ; Kawahara, Takashi T; Kostryukova, Elena S ES; Kulemin, Nickolay A NA; Larin, Andrey K AK; Maciejewska-Karłowska, Agnieszka A; Miyachi, Motohiko M; Muniesa, Carlos A CA; Murakami, Haruka H; Ospanova, Elena A EA; Padmanabhan, Sandosh S; Pavlenko, Alexander V AV; Pyankova, Olga N ON; Santiago, Catalina C; Sawczuk, Marek M; Scott, Robert A RA; Uyba, Vladimir V VV; Yvert, Thomas T; Perusse, Louis L; Ghosh, Sujoy S; Rauramaa, Rainer R; North, Kathryn N KN; Lucia, Alejandro A; Pitsiladis, Yannis Y; Bouchard, Claude C
Publication Date: 2016

Variant appearance in text: rs12573965
PubMed Link: 26824906
Variant Present in the following documents:
  • Main text
  • pone.0147330.pdf
View BVdb publication page