BVES gene homepage

General information
Gene symbol BVES
Gene name blood vessel epicardial substance
Chromosome 6
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_046732.1
Transcript reference NM_001199563.1
Exon/intron information NM_001199563.1 exon/intron table
Associated with diseases LGMD-2X
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 3
Hidden variants 0
Download all this gene's data Download all data
Notes ALias POPDC1.
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 May 05, 2017
Version BVES:170505

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_001199563.1.
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/BVES
HGNC 1152
Entrez Gene 11149
PubMed articles BVES
OMIM - Gene 604577
OMIM - Diseases LGMD-2X (dystrophy, muscular, limb-girdle, type X (LGMD-2X))
HGMD BVES
GeneCards BVES
GeneTests BVES


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024254 6 transcript variant C NM_001199563.1 NP_001186492.1 1


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