| Variant ID | 2265 |
|---|---|
| Entrez Gene ID | 1131 |
| Gene | CHRM3 (GeneCards) |
| Location | hg19 1:239863441-239863441
hg38 1:239700141-239700141 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.239863441 C>T (Genome Assembly: GRCh37) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1008 |
| CADD Raw score (version 1.3) | 0.212752 (Deleterious) |
| FATHMM raw prediction score | 0.15463 (Tolerated) |
| Deleterious probability by DeFine | 0.5595 (Deleterious) |
| Entrez Gene ID | 1131 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHRM3 (GeneCards) |
| Number of variants in CHRM3 in this database | 5 (view all the variants) |
| Full name | cholinergic receptor muscarinic 3 |
| Band | 1q43 |
| Other IDs | Vega: OTTHUMG00000039649 OMIM: 118494 HGNC: HGNC:1952 Ensembl: ENSG00000133019 |
| Other names | HM3, PBS, EGBRS |
| Summary | The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |