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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International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
Information Currently active filter: LSDBs for gene GAA. Remove filter

9 entries on 1 page. Showing entries 1 - 9.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=GAA
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2010-05-05
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/GAA
Marianne Hoogeveen-Westerveld & Pim Pijnappel
Erasmus MC
- - LOVD 3.X 2019-09-30
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GAA
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GAA[gene]

- - ClinVar 2019-12-02
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/GAA
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/GAA
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/GAA
Admin
BRAINN
- - LOVD 3.X 2018-10-15
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/GAA
Admin
BRAINN
- - LOVD 3.X 2019-11-01
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/GAA
Admin
BRAINN
- - LOVD 3.X 2019-11-01