TMC1 homepage - CCHMC Molecular Genetics Laboratory Mutation Database - Leiden Open Variation Database

CCHMC Molecular Genetics Laboratory Mutation Database

transmembrane channel-like 1 (TMC1)

LOVD v.2.0 Build 36 [ Current LOVD status ]
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Curator: Ammar Husami

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
First time submitters	Register here
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
HGMD	TMC1
GeneCards	TMC1
GeneTests	TMC1

For research use. Husamia et al. 2006-2010