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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Or, specify the HGNC Gene Symbol:

International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
Information Currently active filter: LSDBs for gene SPTLC1. Remove filter

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

Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=SPTLC1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 158 ClinVar 2020-03-02
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/SPTLC1
LOVD-team, but with Curator vacancy
LUMC
Rating: 3Rating: 3Rating: 3Rating: 3 37 LOVD 3.X 2020-03-23
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/SPTLC1
Y Yang
SUDA
Rating: 2Rating: 2Rating: 2Rating: 2 7 LOVD 3.X 2015-10-23
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/SPTLC1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/SPTLC1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-13
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/SPTLC1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-12
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/SPTLC1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/SPTLC1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01