Variant Details for NPHP1
Basic Information Top
| Gene Symbol: | NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 ) |
|---|---|
| Gene Full Name: | nephronophthisis 1 (juvenile) |
| Band: | 2q13 |
| Quick Links | Entrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061; HGNC ID: 7905 |
| 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 | 18 | 1 | 0 | 0 | 0 | 0 | 19 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001610 | 2 | 2q13 | gain | Pinto, 2010 | ||||
| AutCNV0001609 | 2 | 2q13 | 110790106 | 110983050 | 192944 | gain | external link | Pinto, 2010 |
| AutCNV0001608 | 2 | 2q13 | 110693317 | 111180543 | 487226 | gain | external link | Pinto, 2010 |
| AutCNV0002396 | 2 | 2q13 | 110849384 | 111180543 | 331159 | loss | external link | Pinto, 2010 |
| AutCNV0001192 | 2 | 2q13 | 110817833 | 111180543 | 362710 | gain | external link | Pinto, 2010 |
| AutCNV0002395 | 2 | 2q13 | 110841556 | 111148771 | 307215 | loss | external link | Pinto, 2010 |
| AutCNV0001005 | 2 | 2q13 | 110841556 | 110983050 | 141494 | loss | external link | Pinto, 2010 |
| AutCNV0002394 | 2 | 2q13 | gain | Pinto, 2010 | ||||
| AutCNV0002243 | 2 | 2q13 | 110852875 | 111180543 | 327668 | loss | external link | Pinto, 2010 |
| AutCNV0002242 | 2 | 2q13 | 110849384 | 111180543 | 331159 | loss | external link | Pinto, 2010 |
| AutCNV0001613 | 2 | 2q13 | 110852875 | 110983050 | 130175 | loss | external link | Pinto, 2010 |
| AutCNV0001612 | 2 | 2q13 | 110849384 | 111180543 | 331159 | loss | external link | Pinto, 2010 |
| AutCNV0001611 | 2 | 2q13 | 110817833 | 111180543 | 362710 | gain | external link | Pinto, 2010 |
| AutCNV0004209 | 2 | 2q13 | loss | Sanders, 2011 | ||||
| AutCNV0003801 | 2 | 2q13 | 110734113 | 111066417 | 332304 | loss | external link | Levy, 2011 |
| AutCNV0004689 | 2 | 2q13 | 110496601 | 111388620 | 892019 | gain | external link | Yasuda Y, 2014 |
| AutCNV0004690 | 2 | 2q13 | 110504318 | 110980108 | 475790 | gain | external link | Yasuda Y, 2014 |
| AutCNV0005622 | 2 | 2 | gain | Mercati O, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 110901141 | T | G | Sanger sequencing | De Rubeis 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||