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