Variant Details for FGF12
Basic Information Top
| Gene Symbol: | FGF12 ( FGF12B,FHF1 ) |
|---|---|
| Gene Full Name: | fibroblast growth factor 12 |
| Band: | 3q28-q29 |
| Quick Links | Entrez ID:2257; OMIM: 601513; Uniprot ID:FGF12_HUMAN; ENSEMBL ID: ENSG00000114279; HGNC ID: 3668 |
| 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 | 5 | 2 | 0 | 0 | 0 | 1 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000128 | 3 | 3q27.2-29 | 185812365 | 193712365 | 7900000 | loss | external link | Jacquemont, 2006 |
| AutCNV0004461 | 3 | 3q28 | 191936662 | 191988319 | 51657 | loss | external link | Nord, 2011 |
| AutCNV0000716 | 3 | 3q27.2-q29 | 184984300 | 196342422 | 11358122 | loss | external link | Bremer, 2011 |
| AutCNV0005822 | 3 | 3q28 | 193430546 | 193452431 | 21885 | loss | external link | Egger G, 2014 |
| AutCNV0005821 | 3 | 3q28 | 193415193 | 193427820 | 12627 | gain | external link | Egger G, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 192078290 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 0 | c.341G>A | p.R114H | Bowling KM, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000048 | 3q29 | 3 | D3S2418 | 2.45 | - | - | Risch, 1999 |