Variant Details for PLCB1
Basic Information Top
| Gene Symbol: | PLCB1 ( FLJ45792,PI-PLC,PLC-154,PLC-I,PLC154 ) |
|---|---|
| Gene Full Name: | phospholipase C, beta 1 (phosphoinositide-specific) |
| Band: | 20p12.3 |
| Quick Links | Entrez ID:23236; OMIM: 607120; Uniprot ID:PLCB1_HUMAN; ENSEMBL ID: ENSG00000182621; HGNC ID: 15917 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000241 | 20 | 20p12.3 | 8044042 | 8527515 | 483473 | loss | external link | Christian, 2008 |
| AutCNV0004375 | 20 | 20p12.3 | 8659242 | 8689441 | 30199 | loss | external link | Sanders, 2011 |
| AutCNV0004178 | 20 | 20p12.3 | 7547735 | 8317965 | 770230 | gain | external link | Levy, 2011 |
| AutCNV0003422 | 20 | 20p12.3 | 8096130 | 8575671 | 479541 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 8337232 | C | T | Sequenom | Michaelson JJ, 2012 |
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! | |||||||