LOVD ADAMTS10 homepage

General information
Gene name ADAM metallopeptidase with thrombospondin type 1 motif, 10
Gene symbol ADAMTS10
Chromosome Location 19p13.3
Database location grenada.lumc.nl
Curator Andreas Laner and Theresa Neuhann
PubMed references View all (unique) PubMed references in the ADAMTS10 database
Date of creation July 07, 2011
Last update October 03, 2013
Version ADAMTS10 131003
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_011840.1
Transcript refseq ID NM_030957.2
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 ADAMTS10 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 13201
Entrez Gene 81794
OMIM - Gene 608990
OMIM - Disease Weill-Marchesani syndrome, autosomal recessive (WMS)
UniProtKB (SwissProt/TrEMBL) Q9H324
HGMD ADAMTS10
GeneCards ADAMTS10
GeneTests ADAMTS10
External link Orphanet

Copyright & disclaimer
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