LOVD TTC37 homepage

General information
Gene name tetratricopeptide repeat domain 37
Gene symbol TTC37
Chromosome Location 5q15
Database location grenada.lumc.nl
Curator Alexandre Fabre
PubMed references View all (unique) PubMed references in the TTC37 database
Date of creation May 17, 2011
Last update January 05, 2013
Version TTC37 130105
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_023414.1
Transcript refseq ID NM_014639.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 11
Total number of individuals with variant(s) 8
Total number of variants reported 11
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the TTC37 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 TTC37 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TTC37 database
Variants with no known pathogenicity Listing of all TTC37 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
HGNC 23639
Entrez Gene 9652
UniProtKB (SwissProt/TrEMBL) Q6PGP7
HGMD TTC37
GeneCards TTC37
GeneTests TTC37
External link Orphanet