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 CFTR. Remove filter

14 entries on 1 page. Showing entries 1 - 14.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=CFTR[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 4848 ClinVar 2024-04-06
CFTR-France
https://cftr.iurc.montp.inserm.fr/cftr/
Corinne BAREIL
Molecular Genetic Laboratory (INSERM U1046)
Rating: 3Rating: 3Rating: 3Rating: 3 877 Other 2021-02-26
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/CFTR
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 665 LOVD 3.X 2024-04-19
Консенсус по клиническим эффектам генетических вариантов
https://cftr.lovd.parseq.pro/genes/CFTR
Ника Валентиновна Петрова & Тамара Симакова
МГНЦ (Москва)
Parseq Lab
Rating: 2Rating: 2Rating: 2Rating: 2 214 LOVD 3.X 2018-05-07
Labor Staber Humangenetik
https://lshg-lovd.labor-staber.de/LOVD/LOVDv.3.0/genes/CFTR
Sabine Heber & Florian Bayersdorfer
Dr. Staber & Kollegen GmbH MVZ für Humangenetik Regensburg
Rating: 2Rating: 2Rating: 2Rating: 2 7 LOVD 3.X 2024-01-11

http://db.cshg.org.cy/genes/CFTR
Carsten W Lederer & Anastasia Raoukka & Savvas Nikolaou
The Cyprus Society of Human Genetics; The Cyprus Institute of Neurology and Genetics
The Cyprus Institute of Neurology & Genetics
The Cyprus Institute of Neurology and Genetics
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2017-09-18
SpainMDB
https://lovd3.isciii.es/genes/CFTR
Sara Monzón & Javier Alonso
Instituto de Salud Carlos III
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X Unknown
Malaysian Node of the Human Variome Project Database
https://myhvpdb.kk.usm.my/genes/CFTR
MyHVP
Universiti Sains Malaysia
Rating: 1Rating: 1Rating: 1Rating: 1 1 LOVD 3.X 2023-02-26
PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
Cystic Fibrosis
http://www.genet.sickkids.on.ca/cftr/
Dr. Johanna M Rommens
Hospital for Sick Children, Toronto, ON, Canada
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/CFTR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
The Clinical and Functional TRanslation of CFTR (CFTR2)
http://www.cftr2.org
CFTR2 Team
Johns Hopkins University
733 N. Broadway
Room 553
Baltimore, MD, 21287 USA
Rating: 0Rating: 0Rating: 0Rating: 0 - Other 2015-08-13
The UMD CFTR mutations database
http://www.umd.be/CFTR/
Christophe Beroud
Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France
Rating: 0Rating: 0Rating: 0Rating: 0 - UMD Unknown
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/CFTR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-10
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