Variant Details for NLRP7
Basic Information Top
| Gene Symbol: | NLRP7 ( CLR19.4,FLJ94610,HYDM,MGC126470,MGC126471,NALP7,NOD12,PAN7,PYPAF3 ) |
|---|---|
| Gene Full Name: | NLR family, pyrin domain containing 7 |
| Band: | 19q13.42 |
| Quick Links | Entrez ID:199713; OMIM: 609661; Uniprot ID:NALP7_HUMAN; ENSEMBL ID: ENSG00000167634; HGNC ID: 22947 |
| 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 | 5 | 3 | 1 | 0 | 0 | 1 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000381 | 19 | 19q13.42 | 54408188 | 56708188 | 2300000 | external link | Zwaag, 2009 | |
| AutCNV0000380 | 19 | 19q13.42 | 54408188 | 56708188 | 2300000 | external link | Zwaag, 2009 | |
| AutCNV0000649 | 19 | 19q13.42 | 54887707 | 55792294 | 904587 | gain | external link | Gregory, 2009 |
| AutCNV0004372 | 19 | 19q13.42 | 55432529 | 55573633 | 141104 | loss | external link | Sanders, 2011 |
| AutCNV0003420 | 19 | 19q13.42 | 54971229 | 55449755 | 478526 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 55452898 | G | T | Sanger sequencing | deleterious | 0.5906 | De Rubeis S, 2014 | ||
| 19 | 55442030 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 19 | 55450865 | T | C | Sanger sequencing | neutral | 0.3543 | Yuen RK, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 19 | 55439074 | C | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000142 | 19q13.42 | 19 | D19S572/D19S418 | - | - | 0.00167 | Lauritsen, 2006 |