NOS1AP c.454-3312T>C

Variant ID: 1-162310313-T-C

NM_014697.2(NOS1AP):c.454-3312T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Nitric Oxide Synthase 1 Adaptor Protein, an Emerging New Genetic Marker for QT Prolongation and Sudden Cardiac Death.

Acta Cardiologica Sinica
Chang, Kuan-Cheng KC; Sasano, Tetsuo T; Wang, Yu-Chen YC; Huang, Shoei K Stephen SK
Publication Date: 2013-05

Variant appearance in text: rs10800465
PubMed Link: 27122710
Variant Present in the following documents:
  • Main text
View BVdb publication page



PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

Annals Of Clinical And Translational Neurology
Hildebrand, Michael S MS; Tankard, Rick R; Gazina, Elena V EV; Damiano, John A JA; Lawrence, Kate M KM; Dahl, Hans-Henrik M HH; Regan, Brigid M BM; Shearer, Aiden Eliot AE; Smith, Richard J H RJ; Marini, Carla C; Guerrini, Renzo R; Labate, Angelo A; Gambardella, Antonio A; Tinuper, Paolo P; Lichetta, Laura L; Baldassari, Sara S; Bisulli, Francesca F; Pippucci, Tommaso T; Scheffer, Ingrid E IE; Reid, Christopher A CA; Petrou, Steven S; Bahlo, Melanie M; Berkovic, Samuel F SF
Publication Date: 2015-08

Variant appearance in text: rs10800465
PubMed Link: 26339676
Variant Present in the following documents:
  • Main text
  • acn30002-0821.pdf
View BVdb publication page



Associations between NOS1AP single nucleotide polymorphisms (SNPs) and QT interval duration in four racial/ethnic groups in the Multi-Ethnic Study of Atherosclerosis (MESA).

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Shah, Sidharth A SA; Herrington, David M DM; Howard, Timothy D TD; Divers, Jasmin J; Arnett, Donna K DK; Burke, Greg L GL; Kao, Weng Hong WH; Guo, Xiuqing X; Siscovick, David S DS; Chakravarti, Aravinda A; Lima, Joao A JA; Psaty, Bruce M BM; Tomaselli, Gordon F GF; Rich, Stephen S SS; Bowden, Donald W DW; Post, Wendy W
Publication Date: 2013-01

Variant appearance in text: rs10800465
PubMed Link: 23347024
Variant Present in the following documents:
  • Main text
View BVdb publication page



A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.

Circulation. Cardiovascular Genetics
Kääb, Stefan S; Crawford, Dana C DC; Sinner, Moritz F MF; Behr, Elijah R ER; Kannankeril, Prince J PJ; Wilde, Arthur A M AA; Bezzina, Connie R CR; Schulze-Bahr, Eric E; Guicheney, Pascale P; Bishopric, Nanette H NH; Myerburg, Robert J RJ; Schott, Jean-Jacques JJ; Pfeufer, Arne A; Beckmann, Britt-Maria BM; Martens, Eimo E; Zhang, Taifang T; Stallmeyer, Birgit B; Zumhagen, Sven S; Denjoy, Isabelle I; Bardai, Abdennasser A; Van Gelder, Isabelle C IC; Jamshidi, Yalda Y; Dalageorgou, Chrysoula C; Marshall, Vanessa V; Jeffery, Steve S; Shakir, Saad S; Camm, A John AJ; Steinbeck, Gerhard G; Perz, Siegfried S; Lichtner, Peter P; Meitinger, Thomas T; Peters, Annette A; Wichmann, H-Erich HE; Ingram, Christiana C; Bradford, Yuki Y; Carter, Shannon S; Norris, Kris K; Ritchie, Marylyn D MD; George, Alfred L AL; Roden, Dan M DM
Publication Date: 2012-02-01

Variant appearance in text: rs10800465
PubMed Link: 22100668
Variant Present in the following documents:
  • Main text
View BVdb publication page