FBN2 gene homepage

General information
Gene symbol FBN2
Gene name fibrillin 2
Chromosome 5
Chromosomal band q23-q31
Imprinted Unknown
Genomic reference NG_008750.1
Transcript reference NM_001999.3
Exon/intron information NM_001999.3 exon/intron table
Associated with diseases DA-9, EOMD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 183
Unique public DNA variants reported 148
Individuals with public variants 23
Hidden variants 0
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 May 03, 2013
Date last updated February 22, 2019
Version FBN2:190222

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_001999.3.
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/FBN2
HGNC 3604
Entrez Gene 2201
PubMed articles FBN2
OMIM - Gene 612570
OMIM - Diseases DA-9 (CCA)
EOMD (macular degeneration, early-onset (EOMD))
HGMD FBN2
GeneCards FBN2
GeneTests FBN2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007762 5 fibrillin 2 NM_001999.3 NP_001990.2 183


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