FBN1 c.5885_5895del ;(p.Y1962Sfs*11)

Variant ID: 15-48737594-GAGCCACCTCAT-G

NM_000138.4(FBN1):c.5885_5895del;(p.Y1962Sfs*11)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.

Frontiers In Molecular Biosciences
Chen, Songchang S; Fei, Hongjun H; Zhang, Junyun J; Chen, Yiyao Y; Huang, Hefeng H; Lu, Daru D; Xu, Chenming C
Publication Date: 2021

Variant appearance in text: FBN1: 5885_5895del; Tyr1962Serfs*11
PubMed Link: 34957211
Variant Present in the following documents:
  • Main text
  • fmolb-08-749842.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: 5885_5895del; Tyr1962Serfs
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