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The B3GALT6 mutation data have been added to a new database.

LOVD B3GALT6 homepage

General information
Gene name beta-1,3-galactosyltransferase 6
Gene symbol B3GALT6
Chromosome Location 1p36.33
Database location Dalgleish Laboratory, Department of Genetics, University of Leicester, UK
Curator Wei Kheng Teh and Raymond Dalgleish
PubMed references View all (unique) PubMed references in the B3GALT6 database
Date of creation November 23, 2016
Last update July 29, 2020
Version B3GALT6 200729
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_033265.1
Transcript refseq ID NM_080605.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 40
Total number of individuals with variant(s) 38
Total number of variants reported 76
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the B3GALT6 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the B3GALT6 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the B3GALT6 database
Variants with no known pathogenicity Listing of all B3GALT6 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 17978
Entrez Gene 126792
OMIM - Gene 615291
UniProtKB (SwissProt/TrEMBL) Q96L58
GeneCards B3GALT6
GeneTests B3GALT6

Copyright & disclaimer
All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database. Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share submitted data with external parties for research purposes or for sharing with other databases.