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:

Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
Information Currently active filter: LSDBs for gene AP5Z1. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AP5Z1[gene]

- - Other 2014-06-02
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AP5Z1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AP5Z1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AP5Z1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AP5Z1
Admin
BRAINN
- - LOVD 3.X 2018-10-14