Variant Details for RRP7A
Basic Information Top
| Gene Symbol: | RRP7A ( BK126B4.3,CGI-96,MGC150422,MGC150423 ) |
|---|---|
| Gene Full Name: | ribosomal RNA processing 7 homolog A (S. cerevisiae) |
| Band: | 22q13.2 |
| Quick Links | Entrez ID:27341; OMIM: NA; Uniprot ID:RRP7A_HUMAN; ENSEMBL ID: ENSG00000189306; HGNC ID: 24286 |
| 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 | 0 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000282 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | loss | external link | Prasad, 2000 |
| AutCNV0000277 | 22 | 22q13 | 37570054 | 51244566 | 13674512 | gain | external link | Wassink, 2001 |
| AutCNV0000384 | 22 | 22q13.2 | 40970054 | 44268667 | 3298613 | external link | Zwaag, 2009 | |
| AutCNV0000383 | 22 | 22q13.2 | 40970054 | 44268667 | 3298613 | external link | Zwaag, 2009 | |
| AutCNV0001471 | 22 | 22q13.2 | 42906304 | 42971999 | 65695 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 42914033 | T | C | Y | Cukier HN, 2014 |
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! | |||||||