The FBLN5 gene homepage

General information
Gene symbol FBLN5
Gene name fibulin 5
Chromosome 14
Chromosomal band q31
Imprinted Unknown
Genomic reference LRG_364
Transcript reference NM_006329.3
Exon/intron information NM_006329.3 exon/intron table
Associated with diseases ADCL-2, ARCL-1A, ARMD, ARMD-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 58
Unique public DNA variants reported 33
Individuals with public variants 1536
Hidden variants 2
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 September 17, 2021
Version FBLN5:210917

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_006329.3.
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/FBLN5
HGNC 3602
Entrez Gene 10516
PubMed articles FBLN5
OMIM - Gene 604580
OMIM - Diseases ADCL-2 (cutis laxa, autosomal dominant, type 2 (ADCL-2))
ARCL-1A (cutis laxa, autosomal recessive, type IA (ARCL-1A))
ARMD-3 (macular degeneration, age-related, type 3 (ARMD-3))
HGMD FBLN5
GeneCards FBLN5
GeneTests FBLN5
Orphanet FBLN5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007759 14 fibulin 5 NM_006329.3 NP_006320.2 58


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