MYH7 c.745C>G ;(p.R249G)

Variant ID: 14-23900678-G-C

NM_000257.2(MYH7):c.745C>G;(p.R249G)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight
Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F
Publication Date: 2022-06-08

Variant appearance in text: rs730880852
PubMed Link: 35511434
Variant Present in the following documents:
  • jciinsight-7-155804-s147.xlsx, sheet 4
  • jciinsight-7-155804-s147.xlsx, sheet 2
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 745C>G; R249G
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases
Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G
Publication Date: 2021-11-24

Variant appearance in text: MYH7: 745C>G; R249G
PubMed Link: 34819141
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2112.pdf
View BVdb publication page



Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal
Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY
Publication Date: 2021-05-21

Variant appearance in text: MYH7: 745C>G; Arg249Gly
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.

Plos One
Okamoto, Ryuji R; Goto, Itaru I; Nishimura, Yuhei Y; Kobayashi, Issei I; Hashizume, Ryotaro R; Yoshida, Yoshinori Y; Ito, Rie R; Kobayashi, Yuhko Y; Nishikawa, Misato M; Ali, Yusuf Y; Saito, Shunsuke S; Tanaka, Toshio T; Sawa, Yoshiki Y; Ito, Masaaki M; Dohi, Kaoru K
Publication Date: 2020

Variant appearance in text: MYH7: 745C>G
PubMed Link: 33048975
Variant Present in the following documents:
  • Main text
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: 745C>G; Arg249Gly
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: 745C>G; R249G
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: 745C>G; Arg249Gly
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.

Journal Of The American Heart Association
Li, Shijie S; Zhang, Ce C; Liu, Nana N; Bai, Hui H; Hou, Cuihong C; Wang, Jizheng J; Song, Lei L; Pu, Jielin J
Publication Date: 2018-10-16

Variant appearance in text: MYH7: R249G; rs730880852
PubMed Link: 30371277
Variant Present in the following documents:
  • JAH3-7-e009910-s001.pdf
  • JAH3-7-e009910.pdf
View BVdb publication page



Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: MYH7: R249G
PubMed Link: 28771489
Variant Present in the following documents:
  • Main text
  • pone.0181465.s002.xlsx, sheet 1
  • pone.0181465.pdf
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: R249G
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s004.xlsx, sheet 1
View BVdb publication page



The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Molecular Genetics & Genomic Medicine
Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Yang, Ren-Qiang RQ; Risgaard, Bjarke B; Køber, Lars L; Haunsø, Stig S; Tfelt-Hansen, Jacob J
Publication Date: 2016-03

Variant appearance in text: MYH7: R249G
PubMed Link: 27066506
Variant Present in the following documents:
  • MGG3-4-135-s001.xlsx, sheet 1
  • MGG3-4-135.pdf
View BVdb publication page