MYBPC3 c.3029del ;(p.E1010Gfs*10)

Variant ID: 11-47355269-CT-C

NM_000256.3(MYBPC3):c.3029del;(p.E1010Gfs*10)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: MYBPC3: 3029del; Glu1010fs
PubMed Link: 33769460
Variant Present in the following documents:
  • ehab148_supplementary_appendix.pdf
View BVdb publication page



Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.

Plos One
Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J
Publication Date: 2020

Variant appearance in text: MYBPC3: 3029delA
PubMed Link: 32369506
Variant Present in the following documents:
  • Main text
  • pone.0232427.pdf
View BVdb publication page