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 HPS1. 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/HPS1
William (Bill) Oetting
University of Minnesota
Rating: 4Rating: 4Rating: 4Rating: 4 84 LOVD 3.X 2024-04-19
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=HPS1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 1106 ClinVar 2024-04-06
Mutations of the ep-Gene
http://www.retina-international.org/files/sci-news/epmut.htm
Retina International
Rating: 0Rating: 0Rating: 0Rating: 0 - None (static pages) Unknown
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/HPS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-14
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=HPS1
Ammar Husami
Cincinnati Children's Hospital Medical Center
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X 2014-04-30
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/HPS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
Albinism Database
http://www.ifpcs.org/albinism/hps1mut.html
William S. Oetting
Albinism Centre Univ. of Minnesota, U.S.A.
Rating: 0Rating: 0Rating: 0Rating: 0 - None (static pages) Unknown
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