MYBPC3 c.3041del ;(p.L1014Rfs*6)

Variant ID: 11-47355257-CA-C

NM_000256.3(MYBPC3):c.3041del;(p.L1014Rfs*6)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.

Scientific Reports
Luo, Qin Q; Chen, Jin J; Zhang, Tianhua T; Tang, Xiaoyu X; Yu, Bilian B
Publication Date: 2020-01-15

Variant appearance in text: MYBPC3: 3041delT
PubMed Link: 31941943
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_57230.pdf
View BVdb publication page



Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

Science Translational Medicine
Toepfer, Christopher N CN; Wakimoto, Hiroko H; Garfinkel, Amanda C AC; McDonough, Barbara B; Liao, Dan D; Jiang, Jianming J; Tai, Angela C AC; Gorham, Joshua M JM; Lunde, Ida G IG; Lun, Mingyue M; Lynch, Thomas L TL; McNamara, James W JW; Sadayappan, Sakthivel S; Redwood, Charles S CS; Watkins, Hugh C HC; Seidman, Jonathan G JG; Seidman, Christine E CE
Publication Date: 2019-01-23

Variant appearance in text: N/A
PubMed Link: 30674652
Variant Present in the following documents:
View BVdb publication page