MYBPC3 c.1351G>C ;(p.E451Q)

Variant ID: 11-47364572-C-G

NM_000256.3(MYBPC3):c.1351G>C;(p.E451Q)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: MYBPC3: 1351G>C; Glu451Gln
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine
Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE
Publication Date: 2017-02-06

Variant appearance in text: MYBPC3: 1351G>C; Glu451Gln
PubMed Link: 28166811
Variant Present in the following documents:
  • Main text
  • 13073_2017_Article_403.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: CMH4: E451Q
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYBPC3: E451Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)
García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L
Publication Date: 2015-07

Variant appearance in text: MYBPC3: Glu451Gln
PubMed Link: 25935763
Variant Present in the following documents:
  • heartjnl-2014-307205-s1.pdf
View BVdb publication page



In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research
Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL
Publication Date: 2011-03-18

Variant appearance in text: cMyBP-C: E451Q
PubMed Link: 21415409
Variant Present in the following documents:
  • Main text
View BVdb publication page



MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.

The Canadian Journal Of Cardiology
Tanjore, Reena R RR; Rangaraju, Advithi A; Kerkar, P G PG; Calambur, Narsimhan N; Nallari, Pratibha P
Publication Date: 2008-02

Variant appearance in text: MYBPC3: E451Q
PubMed Link: 18273486
Variant Present in the following documents:
  • Main text
View BVdb publication page