SCN5A c.103G>A ;(p.G35S)

Variant ID: 3-38674696-C-T

NM_000335.4(SCN5A):c.103G>A;(p.G35S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome.

Human Mutation
Pearman, Charles M CM; Denham, Nathan C NC; Mills, Robert W RW; Ding, Wern Y WY; Modi, Simon S SS; Hall, Mark C S MCS; Todd, Derick M DM; Mahida, Saagar S
Publication Date: 2020-12

Variant appearance in text: SCN5A: G35S
PubMed Link: 33131149
Variant Present in the following documents:
  • Main text
  • HUMU-41-2195.pdf
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01

Variant appearance in text: SCN5A: Gly35Ser
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
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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: 103G>A; Gly35Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.

Nature Communications
Burger, Jan A JA; Landau, Dan A DA; Taylor-Weiner, Amaro A; Bozic, Ivana I; Zhang, Huidan H; Sarosiek, Kristopher K; Wang, Lili L; Stewart, Chip C; Fan, Jean J; Hoellenriegel, Julia J; Sivina, Mariela M; Dubuc, Adrian M AM; Fraser, Cameron C; Han, Yulong Y; Li, Shuqiang S; Livak, Kenneth J KJ; Zou, Lihua L; Wan, Youzhong Y; Konoplev, Sergej S; Sougnez, Carrie C; Brown, Jennifer R JR; Abruzzo, Lynne V LV; Carter, Scott L SL; Keating, Michael J MJ; Davids, Matthew S MS; Wierda, William G WG; Cibulskis, Kristian K; Zenz, Thorsten T; Werner, Lillian L; Dal Cin, Paola P; Kharchencko, Peter P; Neuberg, Donna D; Kantarjian, Hagop H; Lander, Eric E; Gabriel, Stacey S; O'Brien, Susan S; Letai, Anthony A; Weitz, David A DA; Nowak, Martin A MA; Getz, Gad G; Wu, Catherine J CJ
Publication Date: 2016-05-20

Variant appearance in text: SCN5A: 103G>A; G35S
PubMed Link: 27199251
Variant Present in the following documents:
  • ncomms11589-s2.xlsx, sheet 1
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Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.

Frontiers In Physiology
Gütter, Christian C; Benndorf, Klaus K; Zimmer, Thomas T
Publication Date: 2013

Variant appearance in text: LQT3: G35S
PubMed Link: 23805106
Variant Present in the following documents:
  • Main text
  • fphys-04-00153.pdf
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Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese.

Journal Of Cardiovascular Disease Research
Liang, Peng P; Liu, Wenling W; Li, Cuilan C; Tao, Wuhua W; Li, Lei L; Hu, Dayi D
Publication Date: 2010-04

Variant appearance in text: SCN5A: G35S
PubMed Link: 20877689
Variant Present in the following documents:
  • Main text
  • JCDR-1-69.pdf
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Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Heart Rhythm
Medeiros-Domingo, Argelia A; Tan, Bi-Hua BH; Iturralde-Torres, Pedro P; Tester, David J DJ; Tusié-Luna, Teresa T; Makielski, Jonathan C JC; Ackerman, Michael J MJ
Publication Date: 2009-08

Variant appearance in text: SCN5A: G35S
PubMed Link: 19632629
Variant Present in the following documents:
  • Main text
View BVdb publication page