MYH7 c.3376C>T ;(p.R1126C)

Variant ID: 14-23889404-G-A

NM_000257.2(MYH7):c.3376C>T;(p.R1126C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics
Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z
Publication Date: 2020-10

Variant appearance in text: MYH7: 3376C>T; Arg1126Cys
PubMed Link: 32827758
Variant Present in the following documents:
  • mmc12.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: 3376C>T; Arg1126Cys; rs767561318
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

Scientific Reports
Liu, Nana N; Zheng, Min M; Li, Shijie S; Bai, Hui H; Liu, Zhouying Z; Hou, Cui Hong CH; Zhang, Shu S; Pu, Jielin J
Publication Date: 2017-09-06

Variant appearance in text: MYH7: Arg1126Cys
PubMed Link: 28878402
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_11211.pdf
View BVdb publication page