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FBN1 c.2049C>A ;(p.C683*)
Variant ID: 15-48796048-G-T
NM_000138.4(
FBN1
):c.2049C>A;(p.C683*)
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:
De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.
Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Shuling S; Niu, Ziru Z; Wang, Hui H; Ma, Minyue M; Zhang, Wei W; Fang Wang, Shu S; Wang, Jun J; Yan, Hong H; Liu, Yifan Y; Duan, Na N; Zhang, Xiandong X; Yao, Yuanqing Y
Publication Date: 2017-06-26
Variant appearance in text: FBN1: 2049C>A
PubMed Link:
28650953
Variant Present in the following documents:
Main text
medscimonit-23-3136.pdf
View BVdb publication page
Preimplantation genetic diagnosis in marfan syndrome.
Case Reports In Obstetrics And Gynecology
Vlahos, N F NF; Triantafyllidou, O O; Vitoratos, N N; Grigoriadis, C C; Creatsas, G G
Publication Date: 2013
Variant appearance in text: FBN1: C683X
PubMed Link:
23781359
Variant Present in the following documents:
Main text
CRIM.OBGYN2013-542961.pdf
View BVdb publication page