Locus Specific Mutation Databases

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

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Information Currently active filter: LSDBs for gene ABCA12. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Mutations of the ATP-binding Cassette Transporter A 12 (ABCA12) associated with harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis
http://www.med.nagoya-u.ac.jp/derma/ABCA12/
Masashi Akiyama and Kaori Sakai
Hokkaido University Graduate School of Medicine, Japan
- - None (static pages) Unknown
Shared database
https://databases.lovd.nl/shared/genes/ABCA12
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2014-08-22
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA12
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ABCA12[gene]

- - Other 2014-04-03
PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/ABCA12
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/ABCA12
Admin
BRAINN
- - LOVD 3.X 2017-10-26