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:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

Information Currently active filter: LSDBs for gene ATP7A. Remove filter

5 entries on 1 page. Showing entries 1 - 5.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Menkes Disease
https://grenada.lumc.nl/LOVD2/MD/home.php?select_db=ATP7A
Zeynep Tümer
Kennedy Center, Copenhagen University Hospital, Rigshospitalet
- - LOVD 2.X 2013-08-25
Shared database
https://databases.lovd.nl/shared/genes/ATP7A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-05-26
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ATP7A
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ATP7A[gene]

- - Other 2014-09-01
PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown