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 http://www.LOVD.nl/BEST1
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
HGMD BEST1
GeneCards BEST1
GeneTests BEST1
Orphanet BEST1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

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


Copyright & disclaimer
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