SOX10 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol SOX10
Gene name SRY (sex determining region Y)-box 10
Chromosome 22
Chromosomal band q13.1
Imprinted Unknown
Genomic reference LRG_271
Transcript reference NM_006941.3
Exon/intron information NM_006941.3 exon/intron table
Associated with diseases ID, PCWH, WS-2E, WS-4C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 36
Unique public DNA variants reported 31
Individuals with public variants 2
Hidden variants 4
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp). Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created October 05, 2009
Date last updated October 17, 2016
Version SOX10:161017

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_006941.3.
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 11190
Entrez Gene 6663
PubMed articles SOX10
OMIM - Gene 602229
OMIM - Diseases PCWH (PCWH syndrome (PCWH))
WS-2E (Waardenburg syndrome, type 2E, with or without neurologic involvement (WS-2E))
WS-4C (Waardenburg syndrome, type 4C (WS-4C))
GeneCards SOX10
GeneTests SOX10

Active transcripts




NCBI ID     

NCBI Protein ID     

00020045 22 SRY (sex determining region Y)-box 10 NM_006941.3 NP_008872.1 36

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 © 2009-2019. 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.