Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

Please select the first letter of the Gene:
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Or, specify the HGNC Gene Symbol:

Information Currently active filter: LSDBs for gene ACVRL1. Remove filter

7 entries on 1 page. Showing entries 1 - 7.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database
http://www.hhtmutation.org/
Paul Westwood, The Molecular Genetics Service, Edinburgh, UK
Western General Hospital, UK.
- - Other Unknown
Shared database
https://databases.lovd.nl/shared/genes/ACVRL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-08-18
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ACVRL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ACVRL1[gene]

- - Other 2014-11-02
HHT Mutation Database
http://arup.utah.edu/database/ACVRL1/ACVRL1_welcome.php
Whitney Wooderchak, PhD
University of Utah
- - Other Unknown
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/ACVRL1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/ACVRL1
Admin
BRAINN
- - LOVD 3.X 2017-10-26