LOVD CDKN2A homepage

General information
Gene name Cyclin-Dependent Kinase inhibitor 2A
Gene symbol CDKN2A
Chromosome Location 9p21
Database location chromium.lovd.nl
Curator Nienke van der Stoep
PubMed references View all (unique) PubMed references in the CDKN2A database
Date of creation March 10, 2007
Last update June 05, 2014
Version CDKN2A140605
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Reference sequence file coding DNA reference sequence for describing sequence variants
Total number of unique DNA variants reported 155
Total number of individuals with variant(s) 171
Total number of variants reported 171
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CDKN2A database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the CDKN2A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CDKN2A database
Variants with no known pathogenicity Listing of all CDKN2A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 1787
Entrez Gene 1029
OMIM - Gene 600160
OMIM - Disease #1 Melanoma (CMM)
OMIM - Disease #2 Melanome (CMM2)
OMIM - Disease #3 familial melanoma-pancreatic (FAMMMPC)
OMIM - Disease #4 familial pancreatic lymphoma
OMIM - Disease #5 melanoma-astrocytoma syndrome
OMIM - Disease #6 Li-Fraumeni syndrome-1 (LFS1)
GeneTests CDKN2A
External link Orphanet

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.