Variant Details for FBN1
Basic Information Top
| Gene Symbol: | FBN1 ( FBN,MASS,MFS1,OCTD,SGS,SSKS,WMS ) |
|---|---|
| Gene Full Name: | fibrillin 1 |
| Band: | 15q21.1 |
| Quick Links | Entrez ID:2200; OMIM: 134797; Uniprot ID:FBN1_HUMAN; ENSEMBL ID: ENSG00000166147; HGNC ID: 3603 |
| 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 | 3 | 1 | 0 | 2 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000368 | 15 | 15q21.1 | 44912708 | 49812708 | 4900000 | external link | Zwaag, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 48720623 | C | T | Sanger sequencing | deleterious | 0.978 | De Rubeis S, 2014 | ||
| 15 | 48780431 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 15 | 48717681 | G | A | mosaic | PASM | Dou Y, 2017 |
| 15 | 48752465 | G | A | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
| 15 | 48717681 | G | A | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 15 | 48704816 | G | A | c.C8176T | p.R2726W | neutral | 0.1987 | Tammimies K, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000156 | 15q14-q21.1 | 15 | rs723049 | 3.59 | - | - | Allen-Brady, 2010 |
| AutLD0000158 | 15q21.1-q22.2 | 15 | rs383902 | 1.49 | - | - | Allen-Brady, 2010 |