Variant Details for NF1
Basic Information Top
| Gene Symbol: | NF1 ( DKFZp686J1293,FLJ21220,NFNS,VRNF,WSS ) |
|---|---|
| Gene Full Name: | neurofibromin 1 |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:4763; OMIM: 613113; Uniprot ID:NF1_HUMAN; ENSEMBL ID: ENSG00000196712; HGNC ID: 7765 |
| 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 | 2 | 2 | 0 | 3 | 0 | 6 | 13 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005738 | 17 | gain | C Yuen RK, 2017 | |||||
| AutCNV0005737 | 17 | loss | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 29677317 | C | M | c.7375C>A | p.His2459Asn | Sanger sequencing | Sanders SJ, 2012 | ||
| 17 | 29676099 | TCTTA | T | PCR amplification and Sanger s | Dong S, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 29684327 | G | A | R2637Q | Toma C, 2014 | ||||
| c.107C>G | p.(T36S) | Trujillano D, 2017 | |||||||
| 17 | 29684348 | C | T | Y | deleterious | 0.8248 | Turner TN, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000039 | 17q11.2 | 17 | HTTINT2 | 2.34 | - | - | Monaco, 2001 |
| AutLD0000016 | 17q11.2 | 17 | D17S1800 | 2.83 | - | - | Yonan, 2003 |
| AutLD0000008 | 17q11.2 | 17 | D17S1294 | 2.85 | - | - | McCauley, 2005 |
| AutLD0000148 | 17q11.2 | 17 | D17S1800 | 5.82 | 4.88 | 0.000000159 | Sutcliffe, 2005 |
| AutLD0000118 | 17q11.2 | 17 | - | - | 2.1 | - | Spence, 2006 |
| AutLD0000108 | 17q11.2 | 17 | D17S1294 | - | 2.39 | - | Ylisaukko-oja, 2006 |