FBN1 c.1884C>A ;(p.C628*)

Variant ID: 15-48797298-G-T

NM_000138.4(FBN1):c.1884C>A;(p.C628*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 1884C>A; Cys628Ter
PubMed Link: 27611364
Variant Present in the following documents:
  • Main text
  • srep33002.pdf
View BVdb publication page



A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Bmc Genomics
Yao, Zizhen Z; Jaeger, Jochen C JC; Ruzzo, Walter L WL; Morale, Cecile Z CZ; Emond, Mary M; Francke, Uta U; Milewicz, Dianna M DM; Schwartz, Stephen M SM; Mulvihill, Eileen R ER
Publication Date: 2007-09-12

Variant appearance in text: FBN1: C628X
PubMed Link: 17850668
Variant Present in the following documents:
  • Main text
View BVdb publication page



Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

American Journal Of Human Genetics
Schrijver, Iris I; Liu, Wanguo W; Odom, Raanan R; Brenn, Thomas T; Oefner, Peter P; Furthmayr, Heinz H; Francke, Uta U
Publication Date: 2002-08

Variant appearance in text: FBN1: C628X
PubMed Link: 12068374
Variant Present in the following documents:
  • Main text
View BVdb publication page