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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
View BVdb publication page
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