The KBTBD13 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol KBTBD13
Gene name kelch repeat and BTB (POZ) domain containing 13
Chromosome 15
Chromosomal band q22.31
Imprinted Unknown
Genomic reference NG_021411.1
Transcript reference NM_001101362.2
Exon/intron information NM_001101362.2 exon/intron table
Associated with diseases NEM-6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 59
Unique public DNA variants reported 36
Individuals with public variants 68
Hidden variants 2
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created December 11, 2010
Date last updated September 18, 2020
Version KBTBD13:200918

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_001101362.2.
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
HGNC 37227
Entrez Gene 390594
PubMed articles KBTBD13
OMIM - Gene 613727
OMIM - Diseases NEM-6 (myopathy, nemaline, type 6 (NEM-6))
GeneCards KBTBD13
GeneTests KBTBD13

Active transcripts




NCBI ID     

NCBI Protein ID     

00010323 15 kelch repeat and BTB (POZ) domain containing 13 NM_001101362.2 NP_001094832.1 59

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2010-2020. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.