The TNXB gene homepage

Ehlers Danlos Syndrome Variant Database


General information
Gene symbol TNXB
Gene name tenascin XB
Chromosome 6
Chromosomal band p21.33-p21.32
Imprinted Unknown
Genomic reference NG_008337.2
Transcript reference NM_019105.6
Exon/intron information NM_019105.6 exon/intron table
Associated with diseases EDS, EDSCLL, EDSHMB, VUR8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Raymond Dalgleish
Total number of public variants reported 625
Unique public DNA variants reported 455
Individuals with public variants 233
Hidden variants 38
Download all this gene's data Download all data
Notes Change to MANE select NM_001365276.2.
Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 03, 2013
Date last updated March 11, 2024
Version TNXB:240311

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_019105.6.
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/TNXB
HGNC 11976
Entrez Gene 7148
PubMed articles TNXB
OMIM - Gene 600985
OMIM - Diseases EDSCLL (Ehlers-Danlos-like syndrome, classic-like type (EDSCLL))
EDSHMB (Ehlers-Danlos syndrome, hypermobility type (EDSHMB, EDS3))
VUR8 (reflux, vesicoureteral, type 8 (VUR8))
HGMD TNXB
GeneCards TNXB
GeneTests TNXB
Orphanet TNXB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021614 6 transcript variant XB NM_019105.6 NP_061978.6 625


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The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2013-2024. 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.

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