LOVD TMEM216 homepage

General information
Gene name transmembrane protein 216
Gene symbol TMEM216
Chromosome Location 11q13.1
Database location grenada.lumc.nl
Curator Anne Polvi
PubMed references View all (unique) PubMed references in the TMEM216 database
Date of creation June 25, 2010
Last update January 05, 2013
Version TMEM216 130105
Add sequence variant Submit a sequence variant
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Total number of unique DNA variants reported 7
Total number of individuals with variant(s) 104
Total number of variants reported 104
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NOTE The work leading to the establishment of these LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the TMEM216 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 TMEM216 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TMEM216 database
Variants with no known pathogenicity Listing of all TMEM216 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the TMEM216 database in tab-delimited text format.

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 25018
Entrez Gene 51259
OMIM - Gene 613277
UniProtKB (SwissProt/TrEMBL) Q9P0N5
GeneCards TMEM216
GeneTests TMEM216
External link #1 Orphanet
External link #2 Finnis Disease Database (FinDis)

Copyright & disclaimer
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