LOVD TMIE homepage

General information
Gene name transmembrane inner ear
Gene symbol TMIE
Chromosome Location 3p21
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the TMIE database
Date of creation November 05, 2008
Last update April 23, 2010
Version TMIE100423
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NC_000003.10
Transcript refseq ID NM_147196.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 9
Total number of individuals with variant(s) 2
Total number of variants reported 9
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the TMIE 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 TMIE database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TMIE database
Variants with no known pathogenicity Listing of all TMIE variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the TMIE 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

Links to other resources
Entrez Gene 259236
OMIM - Gene 607237
GeneTests TMIE

For research use. Husami et al. 2006-2010