The BFSP1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol BFSP1
Gene name beaded filament structural protein 1, filensin
Chromosome 20
Chromosomal band p12.1
Imprinted Unknown
Genomic reference NG_012423.2
Transcript reference NM_001195.3
Exon/intron information NM_001195.3 exon/intron table
Associated with diseases CTRCT-33
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 20
Unique public DNA variants reported 18
Individuals with public variants 4
Hidden variants 1
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created March 01, 2010
Date last updated September 17, 2021
Version BFSP1:210917

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_001195.3.
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 https://www.LOVD.nl/BFSP1
HGNC 1040
Entrez Gene 631
PubMed articles BFSP1
OMIM - Gene 603307
OMIM - Diseases CTRCT-33 (cataract, type 33 (CTRCT-33))
HGMD BFSP1
GeneCards BFSP1
GeneTests BFSP1
Orphanet BFSP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025578 20 transcript variant 1 NM_001195.3 NP_001186.1 20


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