Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1146
MIM: 100730
HGNC: 1967
Ensembl: ENSG00000196811
Variants:
dbSNP: 1146
ClinVar: 1146
TCGA: ENSG00000196811
COSMIC: CHRNG
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196811 | ENST00000389492 | P07510 |
| ENSG00000196811 | ENST00000651502 | P07510 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30868735 | 2019 | CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. | 6 |
| 30868735 | 2019 | CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. | 6 |
| 30461311 | 2018 | Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family. | 0 |
| 30461311 | 2018 | Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family. | 0 |
| 27245440 | 2016 | Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. | 10 |
| 27245440 | 2016 | Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. | 10 |
| 25411939 | 2015 | Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene. | 3 |
| 25608830 | 2015 | Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. | 6 |
| 25411939 | 2015 | Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene. | 3 |
| 25608830 | 2015 | Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. | 6 |
| 23448903 | 2013 | Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. | 2 |
| 23448903 | 2013 | Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. | 2 |
| 22167768 | 2012 | CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. | 20 |
| 22167768 | 2012 | CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. | 20 |
| 20584212 | 2010 | Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. | 66 |
Citation
Dessen P
CHRNG (cholinergic receptor nicotinic gamma subunit)
Atlas Genet Cytogenet Oncol Haematol. 2009-04-01
Online version: http://atlasgeneticsoncology.org/gene/50850/chrng
