The ADAMTSL4 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol ADAMTSL4
Gene name ADAMTS-like 4
Chromosome 1
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_012172.1
Transcript reference NM_019032.4
Exon/intron information NM_019032.4 exon/intron table
Associated with diseases ECTOL2, ectopia lentis et pupillae
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Andreas Laner and Theresa Neuhann
Total number of public variants reported 204
Unique public DNA variants reported 113
Individuals with public variants 130
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created July 07, 2011
Date last updated February 26, 2024
Version ADAMTSL4:240226

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_019032.4.
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/ADAMTSL4
HGNC 19706
Entrez Gene 54507
PubMed articles ADAMTSL4
OMIM - Gene 610113
OMIM - Diseases ECTOL2 (ectopia lentis, isolated autosomal recessive, type 2 (ECTOL2))
ectopia lentis et pupillae
HGMD ADAMTSL4
GeneCards ADAMTSL4
GeneTests ADAMTSL4
Orphanet ADAMTSL4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002111 1 transcript variant 1 NM_019032.4 NP_061905.2 204


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 © 2011-2024. 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.