Variant Details for ZC3H7A
Basic Information Top
| Gene Symbol: | ZC3H7A ( FLJ10027,FLJ20318,ZC3H7,ZC3HDC7 ) |
|---|---|
| Gene Full Name: | zinc finger CCCH-type containing 7A |
| Band: | 16p13.13 |
| Quick Links | Entrez ID:29066; OMIM: NA; Uniprot ID:Z3H7A_HUMAN; ENSEMBL ID: ENSG00000122299; HGNC ID: 30959 |
| 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 | 1 | 1 | 1 | 0 | 0 | 3 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001143 | 16 | 16p13.13 | 11732155 | 12177713 | 445558 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 11845394 | A | G | Sequenom | Michaelson JJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 16 | 11876164 | T | A | Parental Mosaic Transmitted | Krupp DR, 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000038 | 16p13.13 | 16 | D16S3102 | 2.93 | - | - | Monaco, 2001 |
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000081 | 16p13.13 | 16 | D16S497 | 1.73 | - | - | Lamb, 2005 |