HYLS1 gene homepage

General information
Gene symbol HYLS1
Gene name hydrolethalus syndrome 1
Chromosome 11
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_011842.1
Transcript reference NM_001134793.1, NM_145014.2
Exon/intron information NM_145014.2 exon/intron table
Associated with diseases HLS-1
Citation reference(s) PubMed: Mee et al. 2005, PubMed: Honkala et al. 2009
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 6
Unique public DNA variants reported 6
Individuals with public variants 0
Hidden variants 4
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created September 25, 2012
Date last updated July 01, 2020
Version HYLS1:200701

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_145014.2.
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/HYLS1
External URL Finnish Disease Database (FinDis)
HGNC 26558
Entrez Gene 219844
PubMed articles HYLS1
OMIM - Gene 610693
OMIM - Diseases HLS-1 (hydrolethalus syndrome, type 1 (HLS-1))
GeneCards HYLS1
GeneTests HYLS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001717 11 transcript variant 1 NM_145014.2 NP_659451.1 6
00001724 11 transcript variant 2 NM_001134793.1 NP_001128265.1 5

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 © 2012-2020. 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.