The BEST1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol BEST1
Gene name bestrophin 1
Chromosome 11
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_009033.1
Transcript reference NM_004183.3
Exon/intron information NM_004183.3 exon/intron table
Associated with diseases RP50, VMD, VMD-2, vitreoretinochoroidopathy dominant
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Heidi L. Schulz
Total number of public variants reported 150
Unique public DNA variants reported 110
Individuals with public variants 134
Hidden variants 7
Download all this gene's data Download all data
Notes The origin of this database was the VMD2 Mutation Database @ Institute of Human Genetics, University of Regensburg
This database is one of the "Eye disease" gene variant databases.
Date created April 29, 2010
Date last updated January 03, 2021
Version BEST1:210103

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_004183.3.
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
External URL Orphanet
HGNC 12703
Entrez Gene 7439
PubMed articles BEST1
OMIM - Gene 607854
OMIM - Diseases RP50 (retinitis pigmentosa, type 50 (RP50))
VMD-2 (dystrophy, macular, vitelliform, type 2 (VMD-2 (Best macular dystrophy (BMD)))
vitreoretinochoroidopathy dominant
GeneCards BEST1
GeneTests BEST1
Orphanet BEST1

Active transcripts




NCBI ID     

NCBI Protein ID     

00003366 11 transcript variant 1 NM_004183.3 NP_004174.1 150

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.