Variant Details for CACNA2D4
Basic Information Top
| Gene Symbol: | CACNA2D4 ( RCD4 ) |
|---|---|
| Gene Full Name: | calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
| Band: | 12p13.33 |
| Quick Links | Entrez ID:93589; OMIM: 608171; Uniprot ID:CA2D4_HUMAN; ENSEMBL ID: ENSG00000151062; HGNC ID: 20202 |
| 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 | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001117 | 12 | 12p13.33 | 1948947 | 1983782 | 34835 | loss | external link | Pinto, 2010 |
| AutCNV0003964 | 12 | 12p13.33 | 1949050 | 1983771 | 34721 | loss | external link | Levy, 2011 |
| AutCNV0004821 | 2 | 2q23.1 | gain | Mullegama SV, 2014 | ||||
| AutCNV0004661 | 15 | 20172544 | 22835945 | 2663401 | gain | external link | Laplana M, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 1948914 | molecular inversion probe rese | Turner TN, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||