FBN1 c.6000C>A ;(p.C2000*)

Variant ID: 15-48736775-G-T

NM_000138.4(FBN1):c.6000C>A;(p.C2000*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

American Journal Of Translational Research
Li, Ying Y; Fang, Miaoxian M; Yang, Jue J; Yu, Changjiang C; Kuang, Juntao J; Sun, Tucheng T; Fan, Ruixin R
Publication Date: 2021

Variant appearance in text: FBN1: 6000C>A; Cys2000Ter
PubMed Link: 34150014
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports
Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z
Publication Date: 2016-09-09

Variant appearance in text: FBN1: 6000C>A; Cys2000Ter
PubMed Link: 27611364
Variant Present in the following documents:
  • Main text
  • srep33002.pdf
View BVdb publication page