Variant Details for FANCA
Basic Information Top
| Gene Symbol: | FANCA ( FA,FA-H,FA1,FAA,FACA,FAH,FANCH,MGC75158 ) |
|---|---|
| Gene Full Name: | Fanconi anemia, complementation group A |
| Band: | 16q24.3 |
| Quick Links | Entrez ID:2175; OMIM: 607139; Uniprot ID:FANCA_HUMAN; ENSEMBL ID: ENSG00000187741; HGNC ID: 3582 |
| 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 | 3 | 2 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000695 | 16 | 16q24.3 | 88672499 | 90294753 | 1622254 | gain | external link | Berkel, 2010 |
| AutCNV0002123 | 16 | 16q24.3 | 89760652 | 89927102 | 166450 | loss | external link | Pinto, 2010 |
| AutCNV0003855 | 16 | 16q24.3 | 89796985 | 89809113 | 12128 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 89845355 | C | G | Sanger sequencing | deleterious | 0.9802 | De Rubeis S, 2014 | ||
| 16 | 89816184 | C | T | strong | neutral | 0.056 | Iossifov I, 2014 |
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! | |||||||