Variant Details for DCLRE1C
Basic Information Top
| Gene Symbol: | DCLRE1C ( A-SCID,DCLREC1C,FLJ11360,FLJ36438,RS-SCID,SCIDA,SNM1C,hSNM1C ) |
|---|---|
| Gene Full Name: | DNA cross-link repair 1C |
| Band: | 10p13 |
| Quick Links | Entrez ID:64421; OMIM: 605988; Uniprot ID:DCR1C_HUMAN; ENSEMBL ID: ENSG00000152457; HGNC ID: 17642 |
| 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 | 6 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002744 | 10 | 10p13 | 14987440 | 15060883 | 73443 | gain | external link | Pinto, 2010 |
| AutCNV0001966 | 10 | 10p13 | 14987440 | 15060883 | 73443 | gain | external link | Pinto, 2010 |
| AutCNV0001394 | 10 | 10p13 | 14987440 | 15060883 | 73443 | gain | external link | Pinto, 2010 |
| AutCNV0001286 | 10 | 10p13 | 14987440 | 15060883 | 73443 | gain | external link | Pinto, 2010 |
| AutCNV0001104 | 10 | 10p13 | 14987440 | 15060883 | 73443 | gain | external link | Pinto, 2010 |
| AutCNV0001103 | 10 | 10p13 | 14967405 | 15060883 | 93478 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 14977449 | C | G | strong | Iossifov I, 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! | |||||||