The SOX18 gene homepage


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
General information
Gene symbol SOX18
Gene name SRY (sex determining region Y)-box 18
Chromosome 20
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NG_008095.1
Transcript reference NM_018419.2
Exon/intron information NM_018419.2 exon/intron table
Associated with diseases HLTRS, HLTS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 10
Unique public DNA variants reported 10
Individuals with public variants 1
Hidden variants 1
Download all this gene's data Download all data
Notes This database is one of the "Vascular anomalies and lymphedema" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 14, 2010
Date last updated April 19, 2024
Version SOX18:240419

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_018419.2.
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/SOX18
HGNC 11194
Entrez Gene 54345
PubMed articles SOX18
OMIM - Gene 601618
OMIM - Diseases HLTRS (hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS))
HLTS (hypotrichosis-lymphedema-telangiectasia syndrome (HLTS))
HGMD SOX18
GeneCards SOX18
GeneTests SOX18
Orphanet SOX18


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020052 20 SRY (sex determining region Y)-box 18 NM_018419.2 NP_060889.1 10


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 © 2010-2024. 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.