LOVD TMC1 homepage

General information
Gene name transmembrane channel-like 1
Gene symbol TMC1
Chromosome Location 9q21.12
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the TMC1 database
Date of creation November 18, 2008
Last update February 23, 2013
Version TMC1 130223
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NC_000009.10
Transcript refseq ID NM_138691.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 28
Total number of individuals with variant(s) 3
Total number of variants reported 28
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the TMC1 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 TMC1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TMC1 database
Variants with no known pathogenicity Listing of all TMC1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the TMC1 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 117531
OMIM - Gene 606706
UniProtKB (SwissProt/TrEMBL) Q8TDI8
GeneCards TMC1
GeneTests TMC1

For research use. Husamia et al. 2006-2010