NOS1AP c.112_114delinsAGC ;(p.G38S)

Variant ID: 1-162124201-GGA-AGC

NM_014697.2(NOS1AP):c.112_114delinsAGC;(p.G38S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Allelic Complexity in Long QT Syndrome: A Family-Case Study.

International Journal Of Molecular Sciences
Zullo, Alberto A; Frisso, Giulia G; Detta, Nicola N; Sarubbi, Berardo B; Romeo, Emanuele E; Cordella, Angela A; Vanoye, Carlos G CG; Calabrò, Raffaele R; George, Alfred L AL; Salvatore, Francesco F
Publication Date: 2017-07-27

Variant appearance in text: NOS1AP: G38S
PubMed Link: 28749435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.

Bmc Medical Genetics
Winbo, Annika A; Stattin, Eva-Lena EL; Westin, Ida Maria IM; Norberg, Anna A; Persson, Johan J; Jensen, Steen M SM; Rydberg, Annika A
Publication Date: 2017-07-18

Variant appearance in text: NOS1AP: G38S
PubMed Link: 28720088
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_435.pdf
View BVdb publication page



KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

Bmc Medical Genetics
Lahtinen, Annukka M AM; Marjamaa, Annukka A; Swan, Heikki H; Kontula, Kimmo K
Publication Date: 2011-01-18

Variant appearance in text: NOS1AP: G38S
PubMed Link: 21244686
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-11.pdf
View BVdb publication page



Targeting device therapy: genomics of sudden death.

Heart Failure Clinics
Frangiskakis, J Michael JM; London, Barry B
Publication Date: 2010-01

Variant appearance in text: NOS1AP: G38S
PubMed Link: 19945065
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

Nature Genetics
Pfeufer, Arne A; Sanna, Serena S; Arking, Dan E DE; Müller, Martina M; Gateva, Vesela V; Fuchsberger, Christian C; Ehret, Georg B GB; Orrú, Marco M; Pattaro, Cristian C; Köttgen, Anna A; Perz, Siegfried S; Usala, Gianluca G; Barbalic, Maja M; Li, Man M; Pütz, Benno B; Scuteri, Angelo A; Prineas, Ronald J RJ; Sinner, Moritz F MF; Gieger, Christian C; Najjar, Samer S SS; Kao, W H Linda WH; Mühleisen, Thomas W TW; Dei, Mariano M; Happle, Christine C; Möhlenkamp, Stefan S; Crisponi, Laura L; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Naitza, Silvia S; Steinbeck, Gerhard G; Marroni, Fabio F; Hicks, Andrew A AA; Lakatta, Edward E; Müller-Myhsok, Bertram B; Pramstaller, Peter P PP; Wichmann, H-Erich HE; Schlessinger, David D; Boerwinkle, Eric E; Meitinger, Thomas T; Uda, Manuela M; Coresh, Josef J; Kääb, Stefan S; Abecasis, Gonçalo R GR; Chakravarti, Aravinda A
Publication Date: 2009-04

Variant appearance in text: NOS1AP: G38S
PubMed Link: 19305409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common candidate gene variants are associated with QT interval duration in the general population.

Journal Of Internal Medicine
Marjamaa, A A; Newton-Cheh, C C; Porthan, K K; Reunanen, A A; Lahermo, P P; Väänänen, H H; Jula, A A; Karanko, H H; Swan, H H; Toivonen, L L; Nieminen, M S MS; Viitasalo, M M; Peltonen, L L; Oikarinen, L L; Palotie, A A; Kontula, K K; Salomaa, V V
Publication Date: 2009-04

Variant appearance in text: NOS1AP: G38S
PubMed Link: 19019189
Variant Present in the following documents:
  • Main text
View BVdb publication page