FBN1 c.7247G>A ;(p.G2416E)

Variant ID: 15-48718019-C-T

NM_000138.4(FBN1):c.7247G>A;(p.G2416E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Scientific Reports
Guo, Jun J; Cai, Lun L; Jia, Lixin L; Li, Xiaoyan X; Xi, Xin X; Zheng, Shuai S; Liu, Xuxia X; Piao, Chunmei C; Liu, Tingting T; Sun, Zhongsheng Z; Cai, Tao T; Du, Jie J
Publication Date: 2015-08-14

Variant appearance in text: FBN1: 7247G>A; Gly2416Glu
PubMed Link: 26272055
Variant Present in the following documents:
  • Main text
  • srep13115.pdf
View BVdb publication page