FBN1 c.3455C>T ;(p.A1152V)

Variant ID: 15-48779517-G-A

NM_000138.4(FBN1):c.3455C>T;(p.A1152V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: FBN1: 3455C>T; Ala1152Val; rs539103389
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

Human Genetics
van de Luijtgaarden, Koen M KM; Heijsman, Daphne D; Maugeri, Alessandra A; Weiss, Marjan M MM; Verhagen, Hence J M HJ; IJpma, Arne A; Brüggenwirth, Hennie T HT; Majoor-Krakauer, Danielle D
Publication Date: 2015-08

Variant appearance in text: FBN1: 3455C>T; Ala1152Val
PubMed Link: 26017485
Variant Present in the following documents:
  • Main text
  • 439_2015_Article_1567.pdf
View BVdb publication page