MYBPC3 c.2748G>A ;(p.W916*)

Variant ID: 11-47356750-C-T

NM_000256.3(MYBPC3):c.2748G>A;(p.W916*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYBPC3: 2748G>A; Trp916Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: W916X; rs730880576
PubMed Link: 32344918
Variant Present in the following documents:
  • Main text
  • ijms-21-03040.pdf
View BVdb publication page