FBN1 c.8225A>G ;(p.E2742G)

Variant ID: 15-48704767-T-C

NM_000138.4(FBN1):c.8225A>G;(p.E2742G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.

Bmc Cardiovascular Disorders
Ma, Mingjia M; Li, Zongzhe Z; Mohamed, Mohamed Abdulkadir MA; Liu, Ligang L; Wei, Xiang X
Publication Date: 2021-08-30

Variant appearance in text: FBN1: 8225A>G; Glu2742Gly
PubMed Link: 34461831
Variant Present in the following documents:
  • 12872_2021_2215_MOESM1_ESM.pdf
View BVdb publication page