Variant Details for NFASC
Basic Information Top
| Gene Symbol: | NFASC ( DKFZp686P2250,FLJ46866,KIAA0756,NF,NRCAML ) |
|---|---|
| Gene Full Name: | neurofascin |
| Band: | 1q32.1 |
| Quick Links | Entrez ID:23114; OMIM: 609145; Uniprot ID:NFASC_HUMAN; ENSEMBL ID: ENSG00000163531; HGNC ID: 29866 |
| 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 | 0 | 4 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 204978698 | C | T | c.3105C>T | p.Asn1030Asn | Sanger sequencing | Neale BM, 2012 | ||
| 1 | 204978698 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 204978698 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
| 1 | 204955245 | A | T | Sanger sequencing | Yuen RK, 2016 |
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! | |||||||