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FBN1 c.1302T>G ;(p.Y434*)
Variant ID: 15-48808405-A-C
NM_000138.4(
FBN1
):c.1302T>G;(p.Y434*)
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:
Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts.
Scientific Reports
Umeyama, Kazuhiro K; Watanabe, Kota K; Watanabe, Masahito M; Horiuchi, Keisuke K; Nakano, Kazuaki K; Kitashiro, Masateru M; Matsunari, Hitomi H; Kimura, Tokuhiro T; Arima, Yoshimi Y; Sampetrean, Oltea O; Nagaya, Masaki M; Saito, Masahiro M; Saya, Hideyuki H; Kosaki, Kenjiro K; Nagashima, Hiroshi H; Matsumoto, Morio M
Publication Date: 2016-04-14
Variant appearance in text: FBN1: Tyr434X
PubMed Link:
27074716
Variant Present in the following documents:
Main text
srep24413.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: Y434X
PubMed Link:
12068374
Variant Present in the following documents:
Main text
View BVdb publication page