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, ECTOL-1, GPHYSD-2, MASS, MFS, SSKS, WMS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Kristina Lagerstedt Robinson
Total number of public variants reported 1171
Unique public DNA variants reported 981
Individuals with public variants 99
Hidden variants 13
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 December 23, 2019
Version FBN1:191223

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 http://www.LOVD.nl/FBN1
External URL Orphanet
UMD Locus Specific Databases
HGNC 3603
Entrez Gene 2200
PubMed articles FBN1
OMIM - Gene 134797
OMIM - Diseases ACMID (dysplasia, acromicric (ACMID))
ECTOL-1 (ectopia lentis, type 1 (ECTOL-1))
GPHYSD-2 (dysplasia, geleophysic, type 2 (GPHYSD-2))
MASS (MASS syndrome (MASS))
MFS (syndrome, Marfan (MFS))
SSKS (stiff skin syndrome (SSKS))
WMS-2 (Weill-Marchesani syndrome, type 2 (WMS-2))
GeneCards FBN1
GeneTests FBN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00007761 15 fibrillin 1 NM_000138.4 NP_000129.3 1171

Copyright & disclaimer
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