Variant Details for HLA-B
Basic Information Top
| Gene Symbol: | HLA-B ( AS,HLA-B27,HLA-B73,HLAB,MGC111087,SPDA1 ) |
|---|---|
| Gene Full Name: | major histocompatibility complex, class I, B |
| Band: | 6p21.33 |
| Quick Links | Entrez ID:3106; OMIM: 142830; Uniprot ID:1B07_HUMAN; ENSEMBL ID: ENSG00000234745; HGNC ID: 4932 |
| 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 | 14 | 0 | 0 | 0 | 0 | 0 | 14 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003091 | 6 | 6p21.33 | 31280101 | 31312538 | 32437 | loss | external link | Pinto, 2010 |
| AutCNV0002585 | 6 | 6p21.33 | 31281876 | 31317099 | 35223 | loss | external link | Pinto, 2010 |
| AutCNV0002584 | 6 | 6p21.33 | 31280101 | 31317099 | 36998 | loss | external link | Pinto, 2010 |
| AutCNV0002254 | 6 | 6p21.33 | 31280101 | 31317223 | 37122 | loss | external link | Pinto, 2010 |
| AutCNV0002253 | 6 | 6p21.33 | 31280101 | 31317099 | 36998 | loss | external link | Pinto, 2010 |
| AutCNV0001799 | 6 | 6p21.33 | 31280101 | 31317024 | 36923 | loss | external link | Pinto, 2010 |
| AutCNV0003096 | 6 | 6p21.33 | 31281438 | 31317099 | 35661 | loss | external link | Pinto, 2010 |
| AutCNV0001798 | 6 | 6p21.33 | 31280101 | 31314781 | 34680 | loss | external link | Pinto, 2010 |
| AutCNV0003095 | 6 | 6p21.33 | 31280101 | 31317223 | 37122 | loss | external link | Pinto, 2010 |
| AutCNV0000928 | 6 | 6p21.33 | 31280101 | 31317223 | 37122 | loss | external link | Pinto, 2010 |
| AutCNV0003094 | 6 | 6p21.33 | 31280101 | 31317223 | 37122 | loss | external link | Pinto, 2010 |
| AutCNV0000699 | 6 | 6p21 | 29792021 | 45092022 | 15300001 | gain | external link | Berkel, 2010 |
| AutCNV0003093 | 6 | 6p21.33 | 31280101 | 31317223 | 37122 | loss | external link | Pinto, 2010 |
| AutCNV0003092 | 6 | 6p21.33 | 31280101 | 31317099 | 36998 | loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||