LOVD TNPO3 homepage

General information
Gene name Transportin 3
Gene symbol TNPO3
Chromosome Location 7q32.2
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the TNPO3 database
Date of creation June 01, 2013
Last update October 31, 2015
Version TNPO3 151031
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_023428.1
Transcript refseq ID NM_012470.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 3
Total number of individuals with variant(s) 65
Total number of variants reported 65
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the TNPO3 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 TNPO3 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TNPO3 database
Variants with no known pathogenicity Listing of all TNPO3 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
Homepage http://www.LOVD.nl/TNPO3
HGNC 17103
Entrez Gene 23534
OMIM - Gene 610032
OMIM - Disease dystrophy, muscular, limb-girdle, type 1F (LGMD-1F)
UniProtKB (SwissProt/TrEMBL) Q9Y5L0
HGMD TNPO3
GeneCards TNPO3
GeneTests TNPO3

Copyright & disclaimer
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