FBN1 c.1786T>G ;(p.C596G)

Variant ID: 15-48800830-A-C

NM_000138.4(FBN1):c.1786T>G;(p.C596G)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: FBN1: 1786T>G; Cys596Gly
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
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: 1786T>G; Cys596Gly; rs1057520131
PubMed Link: 34916231
Variant Present in the following documents:
  • jmedgenet-2021-108186supp001.pdf
View BVdb publication page



Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.

The British Journal Of Ophthalmology
Yang, Yuan Y; Zhou, Ya-Li YL; Yao, Teng-Teng TT; Pan, Hui H; Gu, Ping P; Wang, Zhao-Yang ZY
Publication Date: 2021-03

Variant appearance in text: FBN1: C596G
PubMed Link: 32404357
Variant Present in the following documents:
  • bjophthalmol-2019-315265.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: FBN1: 1786T>G; C596G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Verification of hub genes in the expression profile of aortic dissection.

Plos One
Wang, Weitie W; Liu, Qing Q; Wang, Yong Y; Piao, Hulin H; Li, Bo B; Zhu, Zhicheng Z; Li, Dan D; Wang, Tiance T; Xu, Rihao R; Liu, Kexiang K
Publication Date: 2019

Variant appearance in text: FBN1: C596G
PubMed Link: 31751374
Variant Present in the following documents:
  • pone.0224922.pdf
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Comparison of gene expression profiles in aortic dissection and normal human aortic tissues.

Biomedical Reports
Zhang, Liang L; Yu, Cuntao C; Chang, Qian Q; Luo, Xinjin X; Qiu, Juntao J; Liu, Shen S
Publication Date: 2016-10

Variant appearance in text: FBN1: C596G
PubMed Link: 27699008
Variant Present in the following documents:
  • br-05-04-0421.pdf
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C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.

Molecular Vision
Wang, Fengyun F; Li, Bo B; Lan, Lan L; Li, Lin L
Publication Date: 2015

Variant appearance in text: FBN1: 1786T>G; C596G
PubMed Link: 25729264
Variant Present in the following documents:
  • Main text
  • mv-v21-194.pdf
View BVdb publication page