The CHRNG gene homepage

General information
Gene symbol CHRNG
Gene name cholinergic receptor, nicotinic, gamma (muscle)
Chromosome 2
Chromosomal band q37.1
Imprinted Unknown
Genomic reference NG_012954.1
Transcript reference NM_005199.4
Exon/intron information NM_005199.4 exon/intron table
Associated with diseases EVMPS, LMPS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Derek Lim and Julia Vogt
Total number of public variants reported 84
Unique public DNA variants reported 52
Individuals with public variants 299
Hidden variants 18
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created June 12, 2009
Date last updated January 11, 2023
Version CHRNG:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005199.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 1967
Entrez Gene 1146
PubMed articles CHRNG
OMIM - Gene 100730
OMIM - Diseases EVMPS (pterygium syndrome, multiple, Escobar type (EVMPS))
LMPS (multiple pterygium syndrome, lethal type (LMPS ))
GeneCards CHRNG
GeneTests CHRNG
Orphanet CHRNG

Active transcripts




NCBI ID     

NCBI Protein ID     

00005155 2 cholinergic receptor, nicotinic, gamma NM_005199.4 NP_005190.4 84

Copyright & disclaimer
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