LOVD ADAMTSL2 homepage

General information
Gene name ADAMTS-like 2
Gene symbol ADAMTSL2
Chromosome Location 9q34.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
Database reference for citations PMID9628581 PMID14667842
PubMed references View all (unique) PubMed references in the ADAMTSL2 database
Date of creation April 29, 2010
Last update January 05, 2013
Version ADAMTSL2 130105
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_009931.1
Transcript refseq ID NM_001145320.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 14
Total number of individuals with variant(s) 14
Total number of variants reported 24
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the ADAMTSL2 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the ADAMTSL2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ADAMTSL2 database
Variants with no known pathogenicity Listing of all ADAMTSL2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 14631
Entrez Gene 9719
OMIM - Gene 612277
UniProtKB (SwissProt/TrEMBL) Q86TH1
GeneCards ADAMTSL2
GeneTests ADAMTSL2
External link Orphanet