Variant Details for CACNA1B
Basic Information Top
| Gene Symbol: | CACNA1B ( BIII,CACNL1A5,CACNN,Cav2.2 ) |
|---|---|
| Gene Full Name: | calcium channel, voltage-dependent, N type, alpha 1B subunit |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:774; OMIM: 601012; Uniprot ID:CAC1B_HUMAN; ENSEMBL ID: ENSG00000148408; HGNC ID: 1389 |
| 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 | 3 | 1 | 1 | 0 | 0 | 3 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000550 | 9 | 9q34.13-34.3 | 134558770 | 141153431 | 6594661 | loss | external link | Gregory, 2009 |
| AutCNV0004287 | 9 | 9q34.3 | 140680073 | 141072194 | 392121 | loss | external link | Sanders, 2011 |
| AutCNV0003824 | 9 | 9q34.3 | 140680187 | 141020260 | 340073 | loss | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 140772650 | A | G | Sanger sequencing | deleterious | 0.4965 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 9 | 140777199 | G | T | Mosaic | Krupp DR, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000033 | 9q34.3 | 9 | D9S1826 | 1.46 | - | - | Monaco, 2001 |
| AutLD0000075 | 9q34.3 | 9 | D9S158 | 1.66 | - | - | Buxbaum, 2001 |
| AutLD0000079 | 9q34.3 | 9 | D9S158/D9S905 | 1.67 | - | - | Lamb, 2005 |