The FBN1 gene homepage

General information
Gene symbol FBN1
Gene name fibrillin 1
Chromosome 15
Chromosomal band q21.1
Imprinted Unknown
Genomic reference LRG_778
Transcript reference NM_000138.4
Associated with diseases ACMICD, ECTOL1, GPHYSD2, MASSS, MFLS, MFS1, SSKS, WMS2
Citation reference(s) -
Curators (2) Florian Bayersdorfer and Sabine Heber
Total number of public variants reported 7
Unique public DNA variants reported 7
Individuals with public variants 0
Hidden variants -
Date created February 19, 2021
Date last updated October 02, 2023
Version FBN1:231002

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 3603
Entrez Gene 2200
PubMed articles FBN1
OMIM - Gene 134797
OMIM - Diseases ACMICD (ACROMICRIC DYSPLASIA)
ECTOL1 (ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT)
GPHYSD2 (GELEOPHYSIC DYSPLASIA 2)
MASSS (MASS SYNDROME)
MFLS (MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME)
MFS1 (MARFAN SYNDROME, TYPE I)
SSKS (STIFF SKIN SYNDROME)
WMS2 (WEILL-MARCHESANI SYNDROME 2)
HGMD FBN1
GeneCards FBN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000059 15 fibrillin 1 NM_000138.4 NP_000129.3 7


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2021-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.