Variant Details for ALG10
Basic Information Top
| Gene Symbol: | ALG10 ( DIE2,FLJ14751,KCR1 ) |
|---|---|
| Gene Full Name: | asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) |
| Band: | 12p11.1 |
| Quick Links | Entrez ID:84920; OMIM: 603313; Uniprot ID:AG10A_HUMAN; ENSEMBL ID: ENSG00000139133; HGNC ID: 23162 |
| 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 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000221 | 12 | 12p11.1 | 33682077 | 34849459 | 1167382 | gain | external link | Christian, 2008 |
| AutCNV0000568 | 12 | 12p11.1-11.21 | 33163573 | 34394298 | 1230725 | gain | external link | Gregory, 2009 |
| AutCNV0003967 | 12 | 12p11.1 | 33523574 | 34252500 | 728926 | gain | external link | Levy, 2011 |
| AutCNV0003673 | 12 | 12p11.1 | 33524082 | 34778715 | 1254633 | gain | external link | Gai, 2011 |
| AutCNV0000708 | 12 | 12p11.1-12.1 | 24295351 | 34760977 | 10465626 | loss | external link | Soysal, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||