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.




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