Variant Details for ZNF800
Basic Information Top
Gene Symbol: | ZNF800 ( FLJ43301,MGC130032,MGC130033 ) |
---|---|
Gene Full Name: | zinc finger protein 800 |
Band: | 7q31.33 |
Quick Links | Entrez ID:168850; OMIM: NA; Uniprot ID:ZN800_HUMAN; ENSEMBL ID: ENSG00000048405; HGNC ID: 27267 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000143 | 7 | 7q31.1-32.2 | 113741049 | 129227770 | 15486721 | loss | external link | Marshall, 2008 |
AutCNV0004269 | 7 | 7q31.1-q32.1 | 113547764 | 129034485 | 15486721 | loss | external link | Sanders, 2011 |
NGS de novo Mutations Top
iFish (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 | 127014927 | A | G | Sanger and Sequenom | Michaelson JJ, 2012 |
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 |
---|---|---|---|---|---|---|---|
AutLD0000153 | 7q31.31-q32.3 | 7 | rs1990790 | 1.97 | - | - | Allen-Brady, 2010 |