Variant Details for CHRM3
Basic Information Top
| Gene Symbol: | CHRM3 ( HM3 ) |
|---|---|
| Gene Full Name: | cholinergic receptor, muscarinic 3 |
| Band: | 1q43 |
| Quick Links | Entrez ID:1131; OMIM: 118494; Uniprot ID:ACM3_HUMAN; ENSEMBL ID: ENSG00000133019; HGNC ID: 1952 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 2 | 1 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003130 | 1 | 1q43 | 239343728 | 239587512 | 243784 | gain | external link | Gai, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 240072255 | A | G | Sanger sequencing | neutral | 0.2073 | De Rubeis S, 2014 | ||
| 1 | 240072174 | A | T | c.1423?A>T | p.Ile475Phe | Sanger sequencing | deleterious | 0.9843 | Li J, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 240136378 | G | A | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000069 | 1q43 | 1 | D1S2842 | 1.17 | - | - | Buxbaum, 2001 |