MYBPC3 c.587G>A ;(p.W196*)

Variant ID: 11-47371392-C-T

NM_000256.3(MYBPC3):c.587G>A;(p.W196*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

International Journal Of Molecular Sciences
Gao, Jun J; Collyer, John J; Wang, Maochun M; Sun, Fengping F; Xu, Fuyi F
Publication Date: 2020-04-25

Variant appearance in text: MYBPC3: W196X
PubMed Link: 32344918
Variant Present in the following documents:
  • Main text
  • ijms-21-03040.pdf
View BVdb publication page



Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research
Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH
Publication Date: 2013-02

Variant appearance in text: MYBPC3: 587G>A; Trp196X
PubMed Link: 23233322
Variant Present in the following documents:
  • Main text
  • 12265_2012_Article_9425.pdf
View BVdb publication page