Variant Details for PLOD3
Basic Information Top
| Gene Symbol: | PLOD3 ( LH3 ) |
|---|---|
| Gene Full Name: | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
| Band: | 7q22.1 |
| Quick Links | Entrez ID:8985; OMIM: 603066; Uniprot ID:PLOD3_HUMAN; ENSEMBL ID: ENSG00000106397; HGNC ID: 9083 |
| 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 | 2 | 0 | 0 | 1 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 100856461 | C | Y | c.704G>A | p.Arg235Gln | Sanger sequencing | Sanders SJ, 2012 | ||
| 7 | 100850973 | C | T | strong | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 7 | 100850973 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 7 | 100850973 | C | T | mosaic | Sanger Sequencing and Pyrosequencing | Freed D, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000031 | 7q22.1 | 7 | D7S477 | 3.2 | - | - | Monaco, 2001 |