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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International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
Information Currently active filter: LSDBs for gene CLN3. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
Sara E. Mole
MRC Laboratory for Molecular Cell Biology, University College London, United Kingdom
- - None (static pages) Unknown
Mutations of the CLN3 Gene
http://www.retina-international.org/files/sci-news/cln3mut.htm
Retina International
- - None (static pages) Unknown
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/CLN3
Sara Mole
University College London
- - LOVD 3.X 2019-06-20
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=CLN3[gene]

- - ClinVar 2019-10-01
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/CLN3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/CLN3
Y Yang
SUDA
- - LOVD 3.X 2015-10-23
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/CLN3
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/CLN3
Admin
BRAINN
- - LOVD 3.X 2018-10-20
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/CLN3
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/CLN3
Admin
BRAINN
- - LOVD 3.X 2019-11-01