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 PPT1. Remove filter

7 entries on 1 page. Showing entries 1 - 7.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/PPT1
Sara Mole
University College London
Rating: 4Rating: 4Rating: 4Rating: 4 108 LOVD 3.X 2024-02-26
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=PPT1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 715 ClinVar 2024-04-06
NDDVD - Neurodegenerative Diseases Variation Database
http://sysbio.org.cn/NDDVD/genes/PPT1
Y Yang
SUDA
Rating: 2Rating: 2Rating: 2Rating: 2 63 LOVD 3.X 2017-06-30
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/PPT1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-09-30
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/PPT1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
Neuronal Ceroid Lipofuscinoses; NCL Mutations
http://www.ucl.ac.uk/ncl/
Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
Rating: 0Rating: 0Rating: 0Rating: 0 - None (static pages) Unknown
Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
http://www.retina-international.org/files/sci-news/pptmut.htm
Retina International
Rating: 0Rating: 0Rating: 0Rating: 0 - None (static pages) Unknown
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