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:

Information Currently active filter: LSDBs for gene AP3B1. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Albinism Database
http://www.ifpcs.org/albinism/hps2mut.htm
William S. Oetting
Albinism Centre Univ. of Minnesota, U.S.A.;
all data in LOVD3/shared
- - None (static pages) 2001-11-06
AP3B1base: Variation registry for Hermansky-Pudlak syndrome 2
http://structure.bmc.lu.se/idbase/AP3B1base/
Mauno Vihinen, Univ. of Tampere, Finland
- - MUTbase Unknown
Mutations of the Adaptin b3a Gene
http://www.retina-international.org/files/sci-news/adtb3mut.htm
Retina International
- - None (static pages) Unknown
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AP3B1
William (Bill) Oetting
University of Minnesota
- - LOVD 3.X 2014-07-25
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AP3B1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AP3B1[gene]

- - Other 2014-04-03
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=AP3B1
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2014-05-01
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AP3B1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/AP3B1
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2018-01-21