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 158
Unique public DNA variants reported 84
Individuals with public variants 114
Hidden variants 5
Notes This database is one of the "Eye disease" gene variant databases.
Date created July 07, 2011
Date last updated September 15, 2020
Version ADAMTSL4:200915

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
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




NCBI ID     

NCBI Protein ID     

00002111 1 transcript variant 1 NM_019032.4 NP_061905.2 158

Copyright & disclaimer
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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.