FBN1 c.3921T>G ;(p.C1307W)

Variant ID: 15-48773895-A-C

NM_000138.4(FBN1):c.3921T>G;(p.C1307W)

This variant was identified in 4 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: 3921T>G; Cys1307Trp
PubMed Link: 36729443
Variant Present in the following documents:
  • iovs-64-2-5_s004.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: FBN1: C1307W
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis.

Frontiers In Cell And Developmental Biology
Zhang, Min M; Chen, Zexu Z; Chen, Tianhui T; Sun, Xiaodong X; Jiang, Yongxiang Y
Publication Date: 2021

Variant appearance in text: FBN1: 3921T>G; Cys1307Trp
PubMed Link: 35237611
Variant Present in the following documents:
  • Main text
  • fcell-09-816397.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: 3921T>G; Cys1307Trp
PubMed Link: 34281902
Variant Present in the following documents:
  • bjophthalmol-2021-319084supp003.pdf
View BVdb publication page