Variant Details for FLNA
Basic Information Top
| Gene Symbol: | FLNA ( ABP-280,ABPX,DKFZp434P031,FLN,FLN1,FMD,MNS,NHBP,OPD,OPD1,OPD2 ) |
|---|---|
| Gene Full Name: | filamin A, alpha |
| Band: | Xq28 |
| Quick Links | Entrez ID:2316; OMIM: 300017; Uniprot ID:FLNA_HUMAN; ENSEMBL ID: ENSG00000196924; HGNC ID: 3754 |
| 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 | 1 | 0 | 2 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003870 | X | 23q28 | 153576690 | 153779907 | 203217 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 153580387 | C | T | c.6772G>A | p.Glu2258Lys | Not_tested | neutral | 0.4562 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| X | 153593613 | C | T | p.V528M | Y | deleterious | 0.5221 | Brett M, 2014 | |
| X | 153594754 | C | T | c.5051C4T | p.S1684L | Li J, 2017 |
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! | |||||||