Variant Details for LRP1B
Basic Information Top
| Gene Symbol: | LRP1B ( LRP-DIT,LRPDIT ) |
|---|---|
| Gene Full Name: | low density lipoprotein receptor-related protein 1B |
| Band: | 2q22.1-q22.2 |
| Quick Links | Entrez ID:53353; OMIM: 608766; Uniprot ID:LRP1B_HUMAN; ENSEMBL ID: ENSG00000168702; HGNC ID: 6693 |
| 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 | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001474 | 2 | 2q22.1 | 141060408 | 141130695 | 70287 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 141609318 | p.Gly1538Gly | Sanger sequencing | Hashimoto R, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|