| Variant ID | 29643 |
|---|---|
| Entrez Gene ID | 1146 |
| Gene | CHRNG (GeneCards) |
| Location | hg19 2:233409575-233409575
hg38 2:232544865-232544865 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.233409575 T>C (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs139108448 |
| EIGEN score | 0.7644 |
| CADD Raw score (version 1.3) | 5.487756 (Deleterious) |
| FATHMM raw prediction score | 0.97465 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.925 (Deleterious) |
| PROVEAN score | -3.88 (Deleterious) |
| MetaSVM score | 0.916 (Deleterious) |
| MetaLR score | 0.845 (Deleterious) |
| MCAP score | 0.157 (Deleterious) |
| FitCons score | 0.421 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.372 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.153 |
| Deleterious probability by iFish2 | 0.9649 (Deleterious) |
| Deleterious probability by DeFine | 0.9566 (Deleterious) |
| Entrez Gene ID | 1146 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHRNG (GeneCards) |
| Number of variants in CHRNG in this database | 1 (view all the variants) |
| Full name | cholinergic receptor nicotinic gamma subunit |
| Band | 2q37.1 |
| Other IDs | Vega: OTTHUMG00000153327 OMIM: 100730 HGNC: HGNC:1967 Ensembl: ENSG00000196811 |
| Other names | ACHRG |
| Summary | The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009] |
| Individual ID | 28714951.319 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |