FBN1 c.3902G>T ;(p.G1301V)

Variant ID: 15-48773914-C-A

NM_000138.4(FBN1):c.3902G>T;(p.G1301V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: FBN1: G1301V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



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: 3902G>T; Gly1301Val
PubMed Link: 26272055
Variant Present in the following documents:
  • Main text
  • srep13115.pdf
View BVdb publication page