Variant Details for LRP5
Basic Information Top
| Gene Symbol: | LRP5 ( BMND1,EVR1,EVR4,HBM,LR3,LRP7,OPPG,OPS,OPTA1,VBCH2 ) |
|---|---|
| Gene Full Name: | low density lipoprotein receptor-related protein 5 |
| Band: | 11q13.2 |
| Quick Links | Entrez ID:4041; OMIM: 603506; Uniprot ID:LRP5_HUMAN; ENSEMBL ID: ENSG00000162337; HGNC ID: 6697 |
| 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 | 4 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004817 | 2 | 2q23.1 | gain | Mullegama SV, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 11 | 68174018 | G | A | Sanger sequencing | deleterious | 0.8809 | De Rubeis S, 2014 | ||
| 11 | 68201226 | G | A | Sanger sequencing | deleterious | 0.5317 | De Rubeis S, 2014 | ||
| 11 | 68181294 | C | T | PCR or Sanger sequencing | neutral | 0.0983 | Iossifov I, 2014 | ||
| 11 | 68174018 | G | A | c.1828GGG>AGG | p.610G>R | deleterious | 0.8809 | Fromer M, 2014 |
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! | |||||||