FBN1 c.2049C>A ;(p.C683*)

Variant ID: 15-48796048-G-T

NM_000138.4(FBN1):c.2049C>A;(p.C683*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Shuling S; Niu, Ziru Z; Wang, Hui H; Ma, Minyue M; Zhang, Wei W; Fang Wang, Shu S; Wang, Jun J; Yan, Hong H; Liu, Yifan Y; Duan, Na N; Zhang, Xiandong X; Yao, Yuanqing Y
Publication Date: 2017-06-26

Variant appearance in text: FBN1: 2049C>A
PubMed Link: 28650953
Variant Present in the following documents:
  • Main text
  • medscimonit-23-3136.pdf
View BVdb publication page



Preimplantation genetic diagnosis in marfan syndrome.

Case Reports In Obstetrics And Gynecology
Vlahos, N F NF; Triantafyllidou, O O; Vitoratos, N N; Grigoriadis, C C; Creatsas, G G
Publication Date: 2013

Variant appearance in text: FBN1: C683X
PubMed Link: 23781359
Variant Present in the following documents:
  • Main text
  • CRIM.OBGYN2013-542961.pdf
View BVdb publication page