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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Or, specify the HGNC Gene Symbol:

Supported by:
Genome Scan, Next Generation Sequencing Services
Information Currently active filter: LSDBs for gene SACS. Remove filter

8 entries on 1 page. Showing entries 1 - 8.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
SACSIN- Related autosomal recessive ataxia
http://www.medgen.mcgill.ca/SACSIN/
Bernard Brais, Isabelle Thiffault CHUM Notre-Dame Hospital Montreal, Canada
CHUM Notre-Dame Hospital Montreal, Canada
- - Other Unknown
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/SACS
Bernard Brais & Marie-Josée Dicaire
McGill University
- - LOVD 3.X 2018-08-01
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/SACS
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=SACS[gene]

- - Other 2014-11-02
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/SACS
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/SACS
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/SACS
Admin
BRAINN
- - LOVD 3.X 2018-10-02
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/SACS
Admin
BRAINN
- - LOVD 3.X 2018-10-06