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FBN1 c.745G>T ;(p.E249*)
Variant ID: 15-48826394-C-A
NM_000138.4(
FBN1
):c.745G>T;(p.E249*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: E249X
PubMed Link:
12068374
Variant Present in the following documents:
Main text
View BVdb publication page