The B4GALT7 gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol B4GALT7
Gene name beta-1,4-galactosyltransferase 7
Chromosome 5
Chromosomal band q35.3
Imprinted Unknown
Genomic reference NG_015977.1
Transcript reference NM_007255.2
Exon/intron information NM_007255.2 exon/intron table
Associated with diseases EDS, EDSSPD, EDSSPD1, ID, LRS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Raymond Dalgleish and Wei Kheng Teh
Total number of public variants reported 73
Unique public DNA variants reported 36
Individuals with public variants 36
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 17, 2021
Version B4GALT7:210917

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_007255.2.
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/B4GALT7
HGNC 930
Entrez Gene 11285
PubMed articles B4GALT7
OMIM - Gene 604327
OMIM - Diseases EDSSPD1 (Ehlers-Danlos, progeroid, spondylodysplastic syndrome, type 1 (EDSSPD1))
LRS (Larsen syndrome (LRS))
HGMD B4GALT7
GeneCards B4GALT7
GeneTests B4GALT7
Orphanet B4GALT7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003233 5 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) NM_007255.2 NP_009186.1 73


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