MYBPC3 c.2448C>A ;(p.Y816*)

Variant ID: 11-47359096-G-T

NM_000256.3(MYBPC3):c.2448C>A;(p.Y816*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

Data In Brief
Dejgaard, Lars A LA; Haland, Trine F TF; Lie, Oyvind H OH; Ribe, Margareth M; Bjune, Thea T; Leren, Ida Skrinde IS; Berge, Knut Erik KE; Edvardsen, Thor T; Haugaa, Kristina H KH
Publication Date: 2017-12

Variant appearance in text: MYBPC3: Y816*
PubMed Link: 28971120
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

Clinical Cardiology
Fujino, Noboru N; Konno, Tetsuo T; Hayashi, Kenshi K; Hodatsu, Akihiko A; Fujita, Takashi T; Tsuda, Toyonobu T; Nagata, Yoji Y; Kawashiri, Masa-aki MA; Ino, Hidekazu H; Yamagishi, Masakazu M
Publication Date: 2013-03

Variant appearance in text: MYBPC3: Tyr816ter
PubMed Link: 23197398
Variant Present in the following documents:
  • Main text
View BVdb publication page