LOVD SOX10 homepage

General information
Gene name SRY (sex determining region Y)-box 10
Gene symbol SOX10
Chromosome Location 22q13.1
Database location grenada.lumc.nl
Curator Veronique Pingault
PubMed references View all (unique) PubMed references in the SOX10 database
Date of creation October 05, 2009
Last update April 10, 2014
Version SOX10 140410
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Genomic refseq ID NG_007948.1
Transcript refseq ID NM_006941.3
Total number of unique DNA variants reported 78
Total number of individuals with variant(s) 88
Total number of variants reported 82
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the SOX10 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SOX10 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SOX10 database
Variants with no known pathogenicity Listing of all SOX10 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 11190
Entrez Gene 6663
OMIM - Gene 602229
OMIM - Disease #1 WAARDENBURG-SHAH SYNDROME; WS4
OMIM - Disease #2 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH
OMIM - Disease #3 WAARDENBURG SYNDROME, TYPE IIE; WS2E
OMIM - Disease #4 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
UniProtKB (SwissProt/TrEMBL) P56693
HGMD SOX10
GeneCards SOX10
External link Orphanet