MYH7 c.1357C>A ;(p.R453S)

Variant ID: 14-23898214-G-T

NM_000257.2(MYH7):c.1357C>A;(p.R453S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine
Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J
Publication Date: 2022-02

Variant appearance in text: rs121913625
PubMed Link: 35284542
Variant Present in the following documents:
  • atm-10-03-129.pdf
View BVdb publication page



Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology
Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R
Publication Date: 2022-01-21

Variant appearance in text: MYH7: Arg453Ser
PubMed Link: 35061126
Variant Present in the following documents:
  • Main text
  • 43044_2022_Article_240.pdf
View BVdb publication page



Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology
Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R
Publication Date: 2022-01-21

Variant appearance in text: MYH7: Arg453Ser
PubMed Link: 35061126
Variant Present in the following documents:
  • Main text
  • 43044_2022_Article_240.pdf
View BVdb publication page



Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.

Chinese Medical Journal
Liu, Hui-Ting HT; Ji, Fang-Fang FF; Wei, Ling L; Zuo, An-Jun AJ; Gao, Yu-Xiu YX; Qi, Lin L; Jin, Bu B; Wang, Ji-Gang JG; Zhao, Peng P
Publication Date: 2019-12-05

Variant appearance in text: MYH7: Arg453Ser
PubMed Link: 31856055
Variant Present in the following documents:
  • Main text
  • cm9-132-2835.pdf
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: Arg453Ser
PubMed Link: 30681346
Variant Present in the following documents:
  • hcg-12-e002460-s002.xlsx, sheet 8
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: R453S
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
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: MYH7: 1357C>A; Arg453Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Effects of Cardiac Troponin I Mutation P83S on Contractile Properties and the Modulation by PKA-Mediated Phosphorylation.

The Journal Of Physical Chemistry. B
Cheng, Yuanhua Y; Lindert, Steffen S; Oxenford, Lucas L; Tu, An-Yue AY; McCulloch, Andrew D AD; Regnier, Michael M
Publication Date: 2016-08-25

Variant appearance in text: MYH7: R453S
PubMed Link: 27150586
Variant Present in the following documents:
  • Main text
View BVdb publication page