LOVD CHM homepage

General information
Gene name choroideremia (Rab escort protein 1)
Gene symbol CHM
Chromosome Location Xq21.1-q21.3
Database location grenada.lumc.nl
Curator Kerry Goetz, Rebecca Parrish and Robert Hufnagel
Database reference for citations nei.nih.gov/eyegene
PubMed references View all (unique) PubMed references in the CHM database
Date of creation May 13, 2014
Last update July 15, 2014
Version CHM140715
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Genomic refseq ID NG_009874.1
Transcript refseq ID NM_001145414.2
Total number of unique DNA variants reported 69
Total number of individuals with variant(s) 171
Total number of variants reported 171
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CHM database, sorted by type of variant (with graphical displays and statistics)
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 CHM database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CHM database
Variants with no known pathogenicity Listing of all CHM variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the CHM 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
HGNC 1940
Entrez Gene 1121
OMIM - Gene 300390
UniProtKB (SwissProt/TrEMBL) P24386