SCN5A c.1715C>A ;(p.A572D)

Variant ID: 3-38645378-G-T

NM_000335.4(SCN5A):c.1715C>A;(p.A572D)

This variant was identified in 50 publications

View GRCh38 version.




Publications:


Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series.

Heartrhythm Case Reports
van Bakel, Bram M A BMA; Kerstens, Thijs P TP; Arts, Ieva I; Evertz, Reinder R; Beukema, Rypko R; Boulaksil, Mohamed M
Publication Date: 2023-05

Variant appearance in text: SCN5A: A572D
PubMed Link: 37324972
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.

International Journal Of Molecular Sciences
Jaouadi, Hager H; Théron, Alexis A; Hourdain, Jérôme J; Martel, Hélène H; Nguyen, Karine K; Habachi, Raja R; Deharo, Jean-Claude JC; Collart, Frédéric F; Avierinos, Jean-François JF; Zaffran, Stéphane S
Publication Date: 2022-11-21

Variant appearance in text: SCN5A: Ala572Asp
PubMed Link: 36430924
Variant Present in the following documents:
  • Main text
  • ijms-23-14447.pdf
View BVdb publication page



Pharmacogenomics in drug-induced cardiotoxicity: Current status and the future.

Frontiers In Cardiovascular Medicine
Li, Mo-Yun MY; Peng, Li-Ming LM; Chen, Xiao-Ping XP
Publication Date: 2022

Variant appearance in text: SCN5A: 1715C>A
PubMed Link: 36312261
Variant Present in the following documents:
  • Main text
  • fcvm-09-966261.pdf
  • Table_1.pdf
View BVdb publication page



Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj
Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L
Publication Date: 2022

Variant appearance in text: SCN5A: Ala572Asp; rs36210423
PubMed Link: 35996667
Variant Present in the following documents:
  • Main text
  • peerj-10-13913.pdf
View BVdb publication page



Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Publication Date: 2022-01-17

Variant appearance in text: SCN5A: A572D
PubMed Link: 35037686
Variant Present in the following documents:
  • awac006_Supplementary_Data.pdf
View BVdb publication page



Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R.

Channels (Austin, Tex.)
Hu, Rou-Mu RM; Song, Evelyn J EJ; Tester, David J DJ; Deschenes, Isabelle I; Ackerman, Michael J MJ; Makielski, Jonathan C JC; Tan, Bi-Hua BH
Publication Date: 2021-12

Variant appearance in text: SCN5A: A572D
PubMed Link: 33535892
Variant Present in the following documents:
  • KCHL_15_1875645.pdf
View BVdb publication page



Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology
Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA
Publication Date: 2020

Variant appearance in text: SCN5A: Ala572Asp
PubMed Link: 33013630
Variant Present in the following documents:
  • Main text
  • fneur-11-00925.pdf
View BVdb publication page



Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association
Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK
Publication Date: 2020-01-07

Variant appearance in text: SCN5A: Ala572Asp
PubMed Link: 31865891
Variant Present in the following documents:
  • Main text
  • JAH3-9-e012264-s001.pdf
  • JAH3-9-e012264.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 1715C>A; A572D
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: SCN5A: A572D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Bmc Cardiovascular Disorders
Raju, Hariharan H; Ware, James S JS; Skinner, Jonathan R JR; Hedley, Paula L PL; Arno, Gavin G; Love, Donald R DR; van der Werf, Christian C; Tfelt-Hansen, Jacob J; Winkel, Bo Gregers BG; Cohen, Marta C MC; Li, Xinzhong X; John, Shibu S; Sharma, Sanjay S; Jeffery, Steve S; Wilde, Arthur A M AAM; Christiansen, Michael M; Sheppard, Mary N MN; Behr, Elijah R ER
Publication Date: 2019-07-23

Variant appearance in text: SCN5A: A572D; rs36210423
PubMed Link: 31337358
Variant Present in the following documents:
  • Main text
  • 12872_2019_1154_MOESM1_ESM.pdf
  • 12872_2019_Article_1154.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: SCN5A: 1715C>A; Ala572Asp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: rs36210423
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Publication Date: 2019-04

Variant appearance in text: SCN5A: 1715C>A; Ala572Asp
PubMed Link: 30775854
Variant Present in the following documents:
  • EHF2-6-436-s005.xlsx, sheet 1
View BVdb publication page



Cellular Mechanisms of Sinus Node Dysfunction in Carriers of the SCN5A-E161K Mutation and Role of the H558R Polymorphism.

Frontiers In Physiology
Wilders, Ronald R
Publication Date: 2018

Variant appearance in text: SCN5A: A572D
PubMed Link: 30618807
Variant Present in the following documents:
  • Main text
  • fphys-09-01795.pdf
View BVdb publication page



Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24

Variant appearance in text: SCN5A: A572D
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page



Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Publication Date: 2018-07-03

Variant appearance in text: SCN5A: 1715C>A; Ala572Asp; rs36210423
PubMed Link: 29970176
Variant Present in the following documents:
  • 40246_2018_167_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)
Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G
Publication Date: 2018-06

Variant appearance in text: LQT3: A572D
PubMed Link: 29806494
Variant Present in the following documents:
  • Main text
View BVdb publication page



Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Plos One
Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,
Publication Date: 2018

Variant appearance in text: SCN5A: 1715C>A; A572D
PubMed Link: 29672598
Variant Present in the following documents:
  • Main text
  • pone.0196078.pdf
View BVdb publication page



Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Circulation
Giudicessi, John R JR; Roden, Dan M DM; Wilde, Arthur A M AAM; Ackerman, Michael J MJ
Publication Date: 2018-02-06

Variant appearance in text: SCN5A: Ala572Asp
PubMed Link: 29431662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: SCN5A: 1715C>A; A572D; rs36210423
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Identification of NCAN as a candidate gene for developmental dyslexia.

Scientific Reports
Einarsdottir, Elisabet E; Peyrard-Janvid, Myriam M; Darki, Fahimeh F; Tuulari, Jetro J JJ; Merisaari, Harri H; Karlsson, Linnea L; Scheinin, Noora M NM; Saunavaara, Jani J; Parkkola, Riitta R; Kantojärvi, Katri K; Ämmälä, Antti-Jussi AJ; Yiu-Lin Yu, Nancy N; Matsson, Hans H; Nopola-Hemmi, Jaana J; Karlsson, Hasse H; Paunio, Tiina T; Klingberg, Torkel T; Leinonen, Eira E; Kere, Juha J
Publication Date: 2017-08-24

Variant appearance in text: SCN5A: A572D; rs36210423
PubMed Link: 28839234
Variant Present in the following documents:
  • 41598_2017_10175_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SCN5A: 1715C>A; Ala572Asp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

Pflugers Archiv : European Journal Of Physiology
Chadda, Karan R KR; Jeevaratnam, Kamalan K; Lei, Ming M; Huang, Christopher L-H CL
Publication Date: 2017-06

Variant appearance in text: SCN5A: A572D
PubMed Link: 28265756
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: LQT3: A572D
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

Plos One
Franaszczyk, Maria M; Chmielewski, Przemyslaw P; Truszkowska, Grazyna G; Stawinski, Piotr P; Michalak, Ewa E; Rydzanicz, Malgorzata M; Sobieszczanska-Malek, Malgorzata M; Pollak, Agnieszka A; Szczygieł, Justyna J; Kosinska, Joanna J; Parulski, Adam A; Stoklosa, Tomasz T; Tarnowska, Agnieszka A; Machnicki, Marcin M MM; Foss-Nieradko, Bogna B; Szperl, Malgorzata M; Sioma, Agnieszka A; Kusmierczyk, Mariusz M; Grzybowski, Jacek J; Zielinski, Tomasz T; Ploski, Rafal R; Bilinska, Zofia T ZT
Publication Date: 2017

Variant appearance in text: SCN5A: Ala572Asp
PubMed Link: 28045975
Variant Present in the following documents:
  • Main text
View BVdb publication page



Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One
Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R
Publication Date: 2016

Variant appearance in text: SCN5A: 1715C>A; A572D; rs36210423
PubMed Link: 27930701
Variant Present in the following documents:
  • Main text
  • pone.0167358.pdf
View BVdb publication page



Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.

Journal Of The American Heart Association
Veltmann, Christian C; Barajas-Martinez, Hector H; Wolpert, Christian C; Borggrefe, Martin M; Schimpf, Rainer R; Pfeiffer, Ryan R; Cáceres, Gabriel G; Burashnikov, Elena E; Antzelevitch, Charles C; Hu, Dan D
Publication Date: 2016-07-05

Variant appearance in text: SCN5A: A572D
PubMed Link: 27381756
Variant Present in the following documents:
  • Main text
  • JAH3-5-e003379.pdf
View BVdb publication page



Practice viewpoints: AICD, who and when?

Heart Asia
Sung, R J RJ; Chan, N-Y NY
Publication Date: 2009

Variant appearance in text: SCN5A: A572D
PubMed Link: 27325927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.

Epilepsia
Goldman, Alica M AM; Behr, Elijah R ER; Semsarian, Christopher C; Bagnall, Richard D RD; Sisodiya, Sanjay S; Cooper, Paul N PN
Publication Date: 2016-01

Variant appearance in text: SCN5A: Ala572Asp
PubMed Link: 26749013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT3: A572D; rs36210423
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SCN5A: A572D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bmc Medical Genetics
Bagnall, Richard D RD; Molloy, Laura K LK; Kalman, Jonathan M JM; Semsarian, Christopher C
Publication Date: 2014-09-16

Variant appearance in text: SCN5A: Ala572Asp; rs36210423
PubMed Link: 25224718
Variant Present in the following documents:
  • Main text
  • 12881_2014_99_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Toward a hierarchy of mechanisms in CaMKII-mediated arrhythmia.

Frontiers In Pharmacology
Vincent, Kevin P KP; McCulloch, Andrew D AD; Edwards, Andrew G AG
Publication Date: 2014

Variant appearance in text: LQT3: A572D
PubMed Link: 24994983
Variant Present in the following documents:
  • Main text
  • fphar-05-00110.pdf
View BVdb publication page



CaMKII-dependent regulation of cardiac Na(+) homeostasis.

Frontiers In Pharmacology
Grandi, Eleonora E; Herren, Anthony W AW
Publication Date: 2014

Variant appearance in text: LQT3: A572D
PubMed Link: 24653702
Variant Present in the following documents:
  • Main text
  • fphar-05-00041.pdf
View BVdb publication page



Genomic biomarkers of SUDEP in brain and heart.

Epilepsy & Behavior : E&B
Glasscock, Edward E
Publication Date: 2014-09

Variant appearance in text: SCN5A: A572D
PubMed Link: 24139807
Variant Present in the following documents:
  • Main text
View BVdb publication page



Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg
Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH
Publication Date: 2014-03

Variant appearance in text: SCN5A: 1715C>A; Ala572Asp
PubMed Link: 23838598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias.

American Journal Of Physiology. Heart And Circulatory Physiology
Herren, Anthony W AW; Bers, Donald M DM; Grandi, Eleonora E
Publication Date: 2013-08-15

Variant appearance in text: SCN5A: A572D
PubMed Link: 23771687
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders
Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A
Publication Date: 2012-10-25

Variant appearance in text: SCN5A: 1715C>A; A572D; rs36210423
PubMed Link: 23098067
Variant Present in the following documents:
  • 1471-2261-12-95-S2.pdf
View BVdb publication page



Na(+) channel I-II loop mediates parallel genetic and phosphorylation-dependent gating changes.

Circulation
Bers, Donald M DM; Herren, Anthony W AW
Publication Date: 2012-10-23

Variant appearance in text: LQT3: A572D
PubMed Link: 23091083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease.

Circulation
Koval, Olha M OM; Snyder, Jedidiah S JS; Wolf, Roseanne M RM; Pavlovicz, Ryan E RE; Glynn, Patric P; Curran, Jerry J; Leymaster, Nicholas D ND; Dun, Wen W; Wright, Patrick J PJ; Cardona, Natalia N; Qian, Lan L; Mitchell, Colleen C CC; Boyden, Penelope A PA; Binkley, Philip F PF; Li, Chenglong C; Anderson, Mark E ME; Mohler, Peter J PJ; Hund, Thomas J TJ
Publication Date: 2012-10-23

Variant appearance in text: SCN5A: A572D
PubMed Link: 23008441
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: SCN5A: A572D
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
View BVdb publication page



High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg
Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS
Publication Date: 2012-08

Variant appearance in text: SCN5A: A572D
PubMed Link: 22378279
Variant Present in the following documents:
  • Main text
  • ejhg201223a.pdf
View BVdb publication page



A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

Heart Rhythm
Shinlapawittayatorn, Krekwit K; Du, Xi X XX; Liu, Haiyan H; Ficker, Eckhard E; Kaufman, Elizabeth S ES; Deschênes, Isabelle I
Publication Date: 2011-03

Variant appearance in text: LQT3: A572D
PubMed Link: 21109022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Brain Pathology (Zurich, Switzerland)
Tu, Emily E; Bagnall, Richard D RD; Duflou, Johan J; Semsarian, Christopher C
Publication Date: 2011-03

Variant appearance in text: SCN5A: Ala572Asp; rs36210423
PubMed Link: 20875080
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Heart Rhythm
Tester, David J DJ; Valdivia, Carmen C; Harris-Kerr, Carole C; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Makielski, Jonathan C JC; Ackerman, Michael J MJ
Publication Date: 2010-07

Variant appearance in text: SCN5A: A572D
PubMed Link: 20403459
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: SCN5A: A572D
PubMed Link: 19019189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

Heart Rhythm
Johnson, Jonathan N JN; Tester, David J DJ; Perry, James J; Salisbury, Benjamin A BA; Reed, Carol R CR; Ackerman, Michael J MJ
Publication Date: 2008-05

Variant appearance in text: SCN5A: A572D
PubMed Link: 18452873
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

Circulation
Darbar, Dawood D; Kannankeril, Prince J PJ; Donahue, Brian S BS; Kucera, Gayle G; Stubblefield, Tanya T; Haines, Jonathan L JL; George, Alfred L AL; Roden, Dan M DM
Publication Date: 2008-04-15

Variant appearance in text: SCN5A: A572D
PubMed Link: 18378609
Variant Present in the following documents:
  • Main text
View BVdb publication page