The ALMS1 gene homepage

This database is one of the "Eye disease" gene variant databases and the EURO-WABB
project
, the EU registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome
and other rare diabetes syndromes.
General information
Gene symbol ALMS1
Gene name Alstrom syndrome 1
Chromosome 2
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NG_011690.1
Transcript reference NM_015120.4
Exon/intron information NM_015120.4 exon/intron table
Associated with diseases ALMS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Timothy Barrett
Total number of public variants reported 604
Unique public DNA variants reported 403
Individuals with public variants 398
Hidden variants 30
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases and part of the EURO-WABB project:, the EU registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes.
Date created April 29, 2010
Date last updated September 09, 2021
Version ALMS1:210909

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_015120.4.
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/ALMS1
HGNC 428
Entrez Gene 7840
PubMed articles ALMS1
OMIM - Gene 606844
OMIM - Diseases ALMS (Alstrom syndrome (ALMS))
HGMD ALMS1
GeneCards ALMS1
GeneTests ALMS1
Orphanet ALMS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002392 2 Alstrom syndrome 1 NM_015120.4 NP_055935.4 604


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 © 2010-2021. 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 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.