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 PAH. Remove filter

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

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/PAH
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 1613 LOVD 3.X 2024-04-19
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=PAH[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 1605 ClinVar 2024-04-06
Консенсус по клиническим эффектам генетических вариа
http://seqdb.parseq.pro/genes/PAH
Тамара Симакова
Parseq Lab
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X Unknown

http://db.cshg.org.cy/genes/PAH
Savvas Nikolaou & Carsten W Lederer & Anastasia Raoukka
The Cyprus Institute of Neurology and Genetics
The Cyprus Society of Human Genetics; The Cyprus Institute of Neurology and Genetics
The Cyprus Institute of Neurology & Genetics
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2017-09-20
PAHvdb : International database of variations in Phenylalanine Hydroxylase gene
http://www.biopku.org/home/pah.asp
Prof. Nenad Blau
University Children's Hospital
Rating: 0Rating: 0Rating: 0Rating: 0 - Unknown 2013-09-27
Phenylalanine Hydroxylase Locus Knowledgebase
http://www.pahdb.mcgill.ca
Charles R. Scriver, Lynne Prevost, Mélanie Hurtubise & David Konecki
McGill University Health Centre (MUHC), Montreal Children's Hospital, DeBelle Laboratory, Canada
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/PAH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/PAH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-02
VitiVar - Compendium of genes and variants associated with vitiligo
http://vitivar.igib.res.in/genes/PAH
Ankita
CSIR-IGIB
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2015-09-03
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