MYH7 c.1325G>A ;(p.R442H)

Variant ID: 14-23898246-C-T

NM_000257.2(MYH7):c.1325G>A;(p.R442H)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.

International Journal Of Molecular Sciences
Monda, Emanuele E; Lioncino, Michele M; Caiazza, Martina M; Simonelli, Vincenzo V; Nesti, Claudia C; Rubino, Marta M; Perna, Alessia A; Mauriello, Alfredo A; Budillon, Alberta A; Pota, Vincenzo V; Bruno, Giorgia G; Varone, Antonio A; Nigro, Vincenzo V; Santorelli, Filippo Maria FM; Pacileo, Giuseppe G; Russo, Maria Giovanna MG; Frisso, Giulia G; Sampaolo, Simone S; Limongelli, Giuseppe G
Publication Date: 2023-05-22

Variant appearance in text: MYH7: 1325G>A; Arg442His
PubMed Link: 37240454
Variant Present in the following documents:
  • Main text
  • ijms-24-09108.pdf
View BVdb publication page



Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20

Variant appearance in text: MYH7: Arg442His; rs730880870
PubMed Link: 36264615
Variant Present in the following documents:
  • hcg-15-e003704-s001.pdf
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: MYH7: R442H
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis.

Frontiers In Cardiovascular Medicine
Shabani, Mahsima M; Dutta, Diptavo D; Ambale-Venkatesh, Bharath B; Post, Wendy S WS; Taylor, Kent D KD; Rich, Stephen S SS; Wu, Colin O CO; Pereira, Naveen L NL; Shah, Sanjiv J SJ; Chatterjee, Nilanjan N; Rotter, Jerome I JI; Arking, Dan E DE; Lima, Joao A C JAC
Publication Date: 2022

Variant appearance in text: MYH7: Arg442His
PubMed Link: 35265679
Variant Present in the following documents:
  • Main text
  • fcvm-09-804788.pdf
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: MYH7: R442H
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: MYH7: R442H
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R
Publication Date: 2021-05

Variant appearance in text: MYH7: 1325G>A; Arg442His
PubMed Link: 33500567
Variant Present in the following documents:
  • 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MYH7: R442H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MYH7: 1325G>A; R442H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association
van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D
Publication Date: 2019-12-03

Variant appearance in text: MYH7: 1325G>A; Arg442His
PubMed Link: 31771441
Variant Present in the following documents:
  • JAH3-8-e012993.pdf
  • JAH3-8-e012993-s001.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: MYH7: 1325G>A; R442H
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine
Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B
Publication Date: 2019-02

Variant appearance in text: MYH7: Arg442His
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: MYH7: R442H
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: MYH7: 1325G>A; Arg442His; rs730880870
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: MYH7: R442H
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s004.xlsx, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: MYH7: R442H
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
View BVdb publication page



Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

European Journal Of Human Genetics : Ejhg
Tajsharghi, Homa H; Hammans, Simon S; Lindberg, Christopher C; Lossos, Alexander A; Clarke, Nigel F NF; Mazanti, Ingrid I; Waddell, Leigh B LB; Fellig, Yakov Y; Foulds, Nicola N; Katifi, Haider H; Webster, Richard R; Raheem, Olayinka O; Udd, Bjarne B; Argov, Zohar Z; Oldfors, Anders A
Publication Date: 2014-06

Variant appearance in text: MYH7: Arg442His
PubMed Link: 24193343
Variant Present in the following documents:
  • Main text
View BVdb publication page