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:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

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

8 entries on 1 page. Showing entries 1 - 8.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Cystic Fibrosis
http://www.genet.sickkids.on.ca/cftr/
Dr. Johanna M Rommens
Hospital for Sick Children, Toronto, ON, Canada
- - Other Unknown
LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/CFTR
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2013-07-17
UANL // HVP - LOVD
http://www.hvp.cidics.uanl.mx/genes/CFTR
Jose Arcadio Valdes Franco
CIDICS-UANL
- - LOVD 3.X Unknown
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/CFTR
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
MyHVP - Human Variome Project Malaysia Database
http://hvpmalaysia.kk.usm.my/mhgvc/index.php?id=login/genes/CFTR
Abdul Halim Fikri Bin Hashim
Universiti Sains Malaysia
- - LOVD 3.X Unknown
ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=CFTR[gene]

- - Other 2014-11-02
SpainMDB (pre)
http://lovd.isciiides.es/genes/CFTR
Cuesta de la Plaza, Isabel & Alonso Garcia de la Rosa, Francisco Javier
Instituto de Salud Carlos III
- - LOVD 3.X Unknown
SpainMDB
https://lovd3.isciii.es/genes/CFTR
Sara Monzón & Javier Alonso
Instituto de Salud Carlos III
- - LOVD 3.X Unknown