MYH6 c.4328C>A ;(p.A1443D)

Variant ID: 14-23857395-G-T

NM_002471.3(MYH6):c.4328C>A;(p.A1443D)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report.

Bmc Cardiovascular Disorders
Najib, B B; Quibel, T T; Tessier, A A; Mortreux, J J; Bouvagnet, P P; Cohen, C C; Vialard, F F; Dard, R R
Publication Date: 2023-03-08

Variant appearance in text: MYH6: Ala1443Asp
PubMed Link: 36890431
Variant Present in the following documents:
  • Main text
  • 12872_2023_Article_3169.pdf
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: MYH6: 4328C>A; Ala1443Asp
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases.

Journal Of Cardiovascular Development And Disease
Anfinson, Melissa M; Fitts, Robert H RH; Lough, John W JW; James, Jeanne M JM; Simpson, Pippa M PM; Handler, Stephanie S SS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A
Publication Date: 2022-05-03

Variant appearance in text: MYH6: A1443D
PubMed Link: 35621855
Variant Present in the following documents:
  • jcdd-09-00144.pdf
View BVdb publication page



Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04

Variant appearance in text: MYH6: 4328C>A; Ala1443Asp
PubMed Link: 31983221
Variant Present in the following documents:
  • cir-141-387-s002.xlsx, sheet 4
View BVdb publication page



The molecular landscape of ETMR at diagnosis and relapse.

Nature
Lambo, Sander S; Gröbner, Susanne N SN; Rausch, Tobias T; Waszak, Sebastian M SM; Schmidt, Christin C; Gorthi, Aparna A; Romero, July Carolina JC; Mauermann, Monika M; Brabetz, Sebastian S; Krausert, Sonja S; Buchhalter, Ivo I; Koster, Jan J; Zwijnenburg, Danny A DA; Sill, Martin M; Hübner, Jens-Martin JM; Mack, Norman N; Schwalm, Benjamin B; Ryzhova, Marina M; Hovestadt, Volker V; Papillon-Cavanagh, Simon S; Chan, Jennifer A JA; Landgraf, Pablo P; Ho, Ben B; Milde, Till T; Witt, Olaf O; Ecker, Jonas J; Sahm, Felix F; Sumerauer, David D; Ellison, David W DW; Orr, Brent A BA; Darabi, Anna A; Haberler, Christine C; Figarella-Branger, Dominique D; Wesseling, Pieter P; Schittenhelm, Jens J; Remke, Marc M; Taylor, Michael D MD; Gil-da-Costa, Maria J MJ; Łastowska, Maria M; Grajkowska, Wiesława W; Hasselblatt, Martin M; Hauser, Peter P; Pietsch, Torsten T; Uro-Coste, Emmanuelle E; Bourdeaut, Franck F; Masliah-Planchon, Julien J; Rigau, Valérie V; Alexandrescu, Sanda S; Wolf, Stephan S; Li, Xiao-Nan XN; Schüller, Ulrich U; Snuderl, Matija M; Karajannis, Matthias A MA; Giangaspero, Felice F; Jabado, Nada N; von Deimling, Andreas A; Jones, David T W DTW; Korbel, Jan O JO; von Hoff, Katja K; Lichter, Peter P; Huang, Annie A; Bishop, Alexander J R AJR; Pfister, Stefan M SM; Korshunov, Andrey A; Kool, Marcel M
Publication Date: 2019-12

Variant appearance in text: MYH6: A1443D; rs727503234
PubMed Link: 31802000
Variant Present in the following documents:
  • NIHMS1541318-supplement-Supplementary_Table_6.xlsx, sheet 2
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: MYH6: 4328C>A; Ala1443Asp; rs727503234
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I
Publication Date: 2019-02

Variant appearance in text: MYH6: 4328C>A; A1443D
PubMed Link: 29875424
Variant Present in the following documents:
  • 41436_2018_46_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.

Omics : A Journal Of Integrative Biology
Thomford, Nicholas Ekow NE; Dzobo, Kevin K; Yao, Nana Akyaa NA; Chimusa, Emile E; Evans, Jonathan J; Okai, Emmanuel E; Kruszka, Paul P; Muenke, Maximilian M; Awandare, Gordon G; Wonkam, Ambroise A; Dandara, Collet C
Publication Date: 2018-05

Variant appearance in text: MYH6: A1443D
PubMed Link: 29762087
Variant Present in the following documents:
  • Main text
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: MYH6: 4328C>A; Ala1443Asp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

European Heart Journal
Walsh, Roddy R; Buchan, Rachel R; Wilk, Alicja A; John, Shibu S; Felkin, Leanne E LE; Thomson, Kate L KL; Chiaw, Tang Hak TH; Loong, Calvin Chin Woon CCW; Pua, Chee Jian CJ; Raphael, Claire C; Prasad, Sanjay S; Barton, Paul J PJ; Funke, Birgit B; Watkins, Hugh H; Ware, James S JS; Cook, Stuart A SA
Publication Date: 2017-12-07

Variant appearance in text: MYH6: 4328C>A; A1443D
PubMed Link: 28082330
Variant Present in the following documents:
  • ehw603_supplementary_tables_s1_s5_s7.xlsx, sheet 3
View BVdb publication page



Impact of MYH6 variants in hypoplastic left heart syndrome.

Physiological Genomics
Tomita-Mitchell, Aoy A; Stamm, Karl D KD; Mahnke, Donna K DK; Kim, Min-Su MS; Hidestrand, Pip M PM; Liang, Huan Ling HL; Goetsch, Mary A MA; Hidestrand, Mats M; Simpson, Pippa P; Pelech, Andrew N AN; Tweddell, James S JS; Benson, D Woodrow DW; Lough, John W JW; Mitchell, Michael E ME
Publication Date: 2016-12-01

Variant appearance in text: MYH6: A1443D
PubMed Link: 27789736
Variant Present in the following documents:
  • Main text
View BVdb publication page



The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015

Variant appearance in text: MYH6: A1443D
PubMed Link: 25961035
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heavy and light roles: myosin in the morphogenesis of the heart.

Cellular And Molecular Life Sciences : Cmls
England, Jennifer J; Loughna, Siobhan S
Publication Date: 2013-04

Variant appearance in text: MYH6: A1443D
PubMed Link: 22955375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Congenital Heart Disease
Granados-Riveron, Javier T JT; Pope, Mark M; Bu'lock, Frances A FA; Thornborough, Christopher C; Eason, Jacqueline J; Setchfield, Kerry K; Ketley, Ami A; Kirk, Edwin P EP; Fatkin, Diane D; Feneley, Michael P MP; Harvey, Richard P RP; Brook, J David JD
Publication Date: 2012

Variant appearance in text: MYH6: A1443D
PubMed Link: 22011241
Variant Present in the following documents:
  • Main text
  • chd0007-0151.pdf
View BVdb publication page