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 SPTLC2. Remove filter

10 entries on 1 page. Showing entries 1 - 10.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.vib-ua.be/CMTMutations/
Vincent Timmerman
University of Antwerp, Belgium
- - Other 0000-00-00
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/SPTLC2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2019-02-05
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/SPTLC2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=SPTLC2[gene]

- - ClinVar 2019-08-05
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/SPTLC2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/SPTLC2
Y Yang
SUDA
- - LOVD 3.X 2017-05-22
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/SPTLC2
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/SPTLC2
Admin
BRAINN
- - LOVD 3.X 2018-10-03
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/SPTLC2
Admin
BRAINN
- - LOVD 3.X 2018-10-06
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/SPTLC2
Admin
BRAINN
- - LOVD 3.X 2018-12-23