FBN1 c.8041_8042delinsTA ;(p.I2681*)

Variant ID: 15-48707742-AT-TA

NM_000138.4(FBN1):c.8041_8042delinsTA;(p.I2681*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome.

Peerj
Pu, Zhening Z; Sun, Haoliang H; Du, Junjie J; Cheng, Yue Y; He, Keshuai K; Ni, Buqing B; Gu, Weidong W; Dai, Juncheng J; Shao, Yongfeng Y
Publication Date: 2018

Variant appearance in text: FBN1: I2681X
PubMed Link: 30479897
Variant Present in the following documents:
  • Main text
  • peerj-06-5927.pdf
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: I2681X
PubMed Link: 12068374
Variant Present in the following documents:
  • Main text
View BVdb publication page