LOVD ADAMTSL4 homepage

General information
Gene name ADAM metallopeptidase with thrombospondin type 1 motif, like 4
Gene symbol ADAMTSL4
Chromosome Location 1q21.2
Database location grenada.lumc.nl
Curator Andreas Laner and Theresa Neuhann
PubMed references View all (unique) PubMed references in the ADAMTSL4 database
Date of creation July 07, 2011
Last update October 03, 2013
Version ADAMTSL4 131003
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_012172.1
Transcript refseq ID NM_019032.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ADAMTSL4 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 19706
Entrez Gene 54507
OMIM - Gene 610113
OMIM - Disease ectopia lentis, isolated, autosomal recessive
UniProtKB (SwissProt/TrEMBL) Q6UY14
GeneCards ADAMTSL4
GeneTests ADAMTSL4
External link Orphanet

Copyright & disclaimer
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