Variant Details for NXPH1
Basic Information Top
| Gene Symbol: | NXPH1 ( NPH1 ) |
|---|---|
| Gene Full Name: | neurexophilin 1 |
| Band: | 7p21.3 |
| Quick Links | Entrez ID:30010; OMIM: 604639; Uniprot ID:NXPH1_HUMAN; ENSEMBL ID: ENSG00000122584; HGNC ID: 20693 |
| 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 | 4 | 2 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003596 | 7 | 7p21.3 | 8179655 | 8528165 | 348510 | gain | external link | Gai, 2011 |
| AutCNV0003244 | 7 | 7p21.3 | 8199401 | 8494363 | 294962 | gain | external link | Gai, 2011 |
| AutCNV0003243 | 7 | 7p21.3 | 8191582 | 8496547 | 304965 | gain | external link | Gai, 2011 |
| AutCNV0003116 | 7 | 7p21.3 | 8178689 | 8529492 | 350803 | gain | external link | Cukier, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 8739033 | A | G | Sanger | Michaelson JJ, 2012 | ||||
| 7 | 8790890 | A | G | c.307A>G | p.Arg103Gly | Sanger sequencing | deleterious | 0.9909 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||