The CCDC78 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol CCDC78
Gene name coiled-coil domain containing 78
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_032932.1
Transcript reference NM_001031737.2
Exon/intron information NM_001031737.2 exon/intron table
Associated with diseases CNM-4, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 33
Unique public DNA variants reported 27
Individuals with public variants 708
Hidden variants 17
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created September 01, 2012
Date last updated September 17, 2021
Version CCDC78:210917

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_001031737.2.
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/CCDC78
HGNC 14153
Entrez Gene 124093
PubMed articles CCDC78
OMIM - Gene 614666
OMIM - Diseases CNM-4 (myopathy, centronuclear, type 4 (CNM-4))
HGMD CCDC78
GeneCards CCDC78
GeneTests CCDC78
Orphanet CCDC78


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004504 16 coiled-coil domain containing 78 NM_001031737.2 NP_001026907.2 33


Copyright & disclaimer
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 © 2012-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.