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FBN1 c.5065+1G>A
Variant ID: 15-48756095-C-T
NM_000138.4(
FBN1
):c.5065+1G>A
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.
Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022
Variant appearance in text: rs1296209846
PubMed Link:
36582804
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.
Journal Of Medical Genetics
Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S
Publication Date: 2021-12-16
Variant appearance in text: FBN1: 5065+1G>A
PubMed Link:
34916231
Variant Present in the following documents:
jmedgenet-2021-108186supp001.pdf
View BVdb publication page
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Scientific Reports
Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z
Publication Date: 2016-09-09
Variant appearance in text: FBN1: 5065+1G>A
PubMed Link:
27611364
Variant Present in the following documents:
Main text
srep33002.pdf
View BVdb publication page