Variant Details for ITGB1
Basic Information Top
| Gene Symbol: | ITGB1 ( CD29,FNRB,GPIIA,MDF2,MSK12,VLA-BETA,VLAB ) |
|---|---|
| Gene Full Name: | integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) |
| Band: | 10p11.22 |
| Quick Links | Entrez ID:3688; OMIM: 135630; Uniprot ID:ITB1_HUMAN; ENSEMBL ID: ENSG00000150093; HGNC ID: 6153 |
| 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 | 0 | 2 | 0 | 0 | 0 | 3 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 | 33224471 | T | C | PCR or Sanger sequencing | neutral | 0.0529 | Iossifov I, 2014 | ||
| 10 | 33200439 | G | A | p.Pro623Leu | Sanger | deleterious | 0.637 | Krumm N, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000035 | 10p11.22 | 10 | D10S208 | 1.43 | - | - | Monaco, 2001 |
| AutLD0000112 | 10p11.23-q11.23 | 10 | - | - | 1.89 | - | Spence, 2006 |
| AutLD0000132 | 10p11.23-q11.21 | 10 | D10S1426/D10S1669 | - | - | 0.00421 | Lauritsen, 2006 |