The ADAMTSL4 gene homepage

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, NM_025008.3
Associated with diseases Ectopia lentis et pupillae, Ectopia lentis, isolated autosomal recessive
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 178
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 24
Date created November 30, -0001
Date last updated September 28, 2016
Version ADAMTSL4:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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     
00015533 1 Manually created transcript. (expired, new version available) NM_025008.3 - 178
00015532 1 Manually created transcript. (expired, new version available) NM_019032.4 - 152