LOVD CHRND homepage

General information
Gene name Cholinergic receptor, nicotinic, delta
Gene symbol CHRND
Chromosome Location 2q33-qter
Database location the Leiden Muscular Dystrophy pages
Curator David Beeson and Johan den Dunnen
PubMed references View all (unique) PubMed references in the CHRND database
Date of creation February 01, 2011
Last update June 28, 2014
Version CHRND140628
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008028.1
Transcript refseq ID NM_000751.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 21
Total number of individuals with variant(s) 170
Total number of variants reported 195
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CHRND 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 CHRND database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CHRND database
Variants with no known pathogenicity Listing of all CHRND 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
Homepage http://www.LOVD.nl/CHRND
HGNC 1965
Entrez Gene 1144
OMIM - Gene 100720
OMIM - Disease #1 myasthenic syndrome, congenital, fast-channel (FCCMS)
OMIM - Disease #2 multiple pterygium syndrome, lethal
OMIM - Disease #3 myasthenic syndrome, congenital, slow-channel (SCCMS)
UniProtKB (SwissProt/TrEMBL) Q07001
GeneCards CHRND
GeneTests CHRND

Copyright & disclaimer
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