The LYST gene homepage

General information
Gene symbol LYST
Gene name lysosomal trafficking regulator
Chromosome 1
Chromosomal band q42.1-q42.2
Imprinted Unknown
Genomic reference NG_007397.1
Transcript reference NM_000081.3
Exon/intron information NM_000081.3 exon/intron table
Associated with diseases CHS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 256
Unique public DNA variants reported 197
Individuals with public variants 65
Hidden variants 23
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.
Date created April 29, 2010
Date last updated February 08, 2021
Version LYST:210208

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_000081.3.
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
External URL Orphanet
Albinism Database
LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Mutations of the Chediak Higashi Syndrome
HGNC 1968
Entrez Gene 1130
PubMed articles LYST
OMIM - Gene 606897
OMIM - Diseases CHS (Chediak-Higashi syndrome (CHS))
GeneCards LYST
GeneTests LYST
Orphanet LYST

Active transcripts




NCBI ID     

NCBI Protein ID     

00025423 1 transcript variant 1 NM_000081.3 NP_000072.2 256

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 © 2010-2021. 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.