Variant Details for C1GALT1
Basic Information Top
| Gene Symbol: | C1GALT1 ( C1GALT,T-synthase ) |
|---|---|
| Gene Full Name: | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 |
| Band: | 7p22.1-p21.3 |
| Quick Links | Entrez ID:56913; OMIM: 610555; Uniprot ID:C1GLT_HUMAN; ENSEMBL ID: ENSG00000106392; HGNC ID: 24337 |
| 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 | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000249 | 7 | 7p22.2-22.1 | 2133474 | 7233475 | 5100001 | loss | external link | Yu, 2002 |
| AutCNV0003595 | 7 | 7p21.3 | 7283017 | 7336294 | 53277 | loss | external link | Gai, 2011 |
| AutCNV0004081 | 7 | 7p22.1 | 6982627 | 7230016 | 247389 | gain | external link | Levy, 2011 |
| AutCNV0003594 | 7 | 7p21.3 | 7273440 | 7343717 | 70277 | loss | external link | Gai, 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! | |||||||