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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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