The FBN1 gene homepage

General information
Gene symbol FBN1
Gene name fibrillin 1
Chromosome 15
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_008805.2
Transcript reference NM_000138.4
Exon/intron information NM_000138.4 exon/intron table
Associated with diseases ACMID, ECTOL1, GPHYSD2, MASS, MFLS, MFS, SSKS, WMS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Kristina Lagerstedt Robinson
Total number of public variants reported 1678
Unique public DNA variants reported 1282
Individuals with public variants 663
Hidden variants 23
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated July 07, 2023
Version FBN1:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000138.4.
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
Homepage URL
External URL UMD Locus Specific Databases
HGNC 3603
Entrez Gene 2200
PubMed articles FBN1
OMIM - Gene 134797
OMIM - Diseases ACMID (dysplasia, acromicric (ACMID))
ECTOL1 (ectopia lentis, type 1 (ECTOL-1))
GPHYSD2 (dysplasia, geleophysic, type 2 (GPHYSD-2))
MASS (MASS syndrome (MASS))
MFLS (lipodystrophy, Marfan syndrome (MFLS))
MFS (Marfan syndrome (MFS))
SSKS (stiff skin syndrome (SSKS))
WMS2 (Weill-Marchesani syndrome, type 2 (WMS-2))
GeneCards FBN1
GeneTests FBN1
Orphanet FBN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00007761 15 fibrillin 1 NM_000138.4 NP_000129.3 1678

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