The SOX10 gene homepage

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, WS2E, WS4C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Veronique Pingault
Total number of public variants reported 183
Unique public DNA variants reported 142
Individuals with public variants 130
Hidden variants 5
Download all this gene's data Download all data
Notes Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created October 05, 2009
Date last updated September 17, 2021
Version SOX10:210917

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_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 https://www.LOVD.nl/SOX10
HGNC 11190
Entrez Gene 6663
PubMed articles SOX10
OMIM - Gene 602229
OMIM - Diseases PCWH (syndrome, PCWH (PCWH))
WS2E (syndrome, Waardenburg, type 2E, with or without neurologic involvement (WS2E))
WS4C (syndrome, Waardenburg, type 4C (WS4C))
HGMD SOX10
GeneCards SOX10
GeneTests SOX10
Orphanet SOX10


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020045 22 SRY (sex determining region Y)-box 10 NM_006941.3 NP_008872.1 183


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