MYBPC3 c.1816G>A ;(p.V606I)

Variant ID: 11-47362770-C-T

NM_000256.3(MYBPC3):c.1816G>A;(p.V606I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: MYBPC3: Val606Ile; rs368482358
PubMed Link: 36264615
Variant Present in the following documents:
  • hcg-15-e003704-s001.pdf
View BVdb publication page



Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.

Scientific Reports
Luo, Qin Q; Chen, Jin J; Zhang, Tianhua T; Tang, Xiaoyu X; Yu, Bilian B
Publication Date: 2020-01-15

Variant appearance in text: MYBPC3: 1816G>A
PubMed Link: 31941943
Variant Present in the following documents:
  • 41598_2019_Article_57230.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MYBPC3: 1816G>A
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy.

Cells
Dorsch, Larissa M LM; Schuldt, Maike M; dos Remedios, Cristobal G CG; Schinkel, Arend F L AFL; de Jong, Peter L PL; Michels, Michelle M; Kuster, Diederik W D DWD; Brundel, Bianca J J M BJJM; van der Velden, Jolanda J
Publication Date: 2019-07-18

Variant appearance in text: MYBPC3: 1816G>A
PubMed Link: 31323898
Variant Present in the following documents:
  • cells-08-00741.pdf
View BVdb publication page



Using high-resolution variant frequencies to empower clinical genome interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Whiffin, Nicola N; Minikel, Eric E; Walsh, Roddy R; O'Donnell-Luria, Anne H AH; Karczewski, Konrad K; Ing, Alexander Y AY; Barton, Paul J R PJR; Funke, Birgit B; Cook, Stuart A SA; MacArthur, Daniel D; Ware, James S JS
Publication Date: 2017-10

Variant appearance in text: MYBPC3: 1816G>A
PubMed Link: 28518168
Variant Present in the following documents:
  • gim201726x1.pdf
View BVdb publication page