ADAMTS13 gene homepage

General information
Gene symbol ADAMTS13
Gene name ADAM metallopeptidase with thrombospondin type 1 motif, 13
Chromosome 9
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_011934.2
Transcript reference NM_139025.3
Associated with diseases TTP
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 92
Unique public DNA variants reported 69
Individuals with public variants 66
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated November 08, 2018
Version ADAMTS13:181108

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 https://www.LOVD.nl/ADAMTS13
External URL Orphanet
HGNC 1366
Entrez Gene 11093
PubMed articles ADAMTS13
OMIM - Gene 604134
OMIM - Diseases TTP (thrombocytopenic purpura, thrombotic, congenital (TTP, Upshaw-Schulman syndrome))
HGMD ADAMTS13
GeneCards ADAMTS13
GeneTests ADAMTS13


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000052 9 ADAM metallopeptidase with thrombospondin type 1 motif, 13, transcript variant 1 NM_139025.3 NP_620594.1 92


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