FBN1 c.1709G>C ;(p.C570S)

Variant ID: 15-48802246-C-G

NM_000138.4(FBN1):c.1709G>C;(p.C570S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science
Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W
Publication Date: 2023-02-01

Variant appearance in text: FBN1: 1709G>C; Cys570Ser
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s003.xlsx, sheet 1
View BVdb publication page



Giant internal carotid artery aneurysms and porcelain aorta in an elderly patient with Marfan syndrome.

Clinical Case Reports
Yagi, Hiroki H; Takeda, Norifumi N; Hosoya, Yumiko Y; Yamauchi, Haruo H; Komuro, Issei I
Publication Date: 2022-08

Variant appearance in text: FBN1: 1709G>C; Cys570Ser
PubMed Link: 35957784
Variant Present in the following documents:
  • Main text
  • CCR3-10-e6190.pdf
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: 1709G>C; Cys570Ser
PubMed Link: 34916231
Variant Present in the following documents:
  • jmedgenet-2021-108186supp001.pdf
View BVdb publication page



Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology
Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y
Publication Date: 2022-12

Variant appearance in text: FBN1: 1709G>C; Cys570Ser
PubMed Link: 34281902
Variant Present in the following documents:
  • Main text
  • bjophthalmol-2021-319084supp003.pdf
  • bjophthalmol-2021-319084supp004.pdf
  • bjophthalmol-2021-319084.pdf
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A novel FBN1 mutation causes autosomal dominant Marfan syndrome.

Molecular Medicine Reports
Xiao, Ying Y; Liu, Xiaoqi X; Guo, Xiaoxin X; Liu, Liping L; Jiang, Linxin L; Wang, Qi Q; Gong, Bo B
Publication Date: 2017-11

Variant appearance in text: FBN1: 1709G>C; C570S
PubMed Link: 28944857
Variant Present in the following documents:
  • Main text
  • mmr-16-05-7321.pdf
View BVdb publication page