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
Associated with diseases Ectopia lentis et pupillae, Ectopia lentis, isolated autosomal recessive
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Andreas Laner and Theresa Neuhann
Total number of public variants reported 137
Unique public DNA variants reported 66
Individuals with public variants 73
Hidden variants 2
Notes This database is one of the "Eye disease" gene variant databases.
Date created July 07, 2011
Date last updated March 03, 2019
Version ADAMTSL4:190303

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/ADAMTSL4
External URL Orphanet
HGNC 19706
Entrez Gene 54507
PubMed articles ADAMTSL4
OMIM - Gene 610113
OMIM - Diseases Ectopia lentis et pupillae
Ectopia lentis, isolated autosomal recessive


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002111 1 transcript variant 1 NM_019032.4 NP_061905.2 137


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 © 2011-2019. 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.

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