Variant Details for L3MBTL1
Basic Information Top
| Gene Symbol: | L3MBTL1 ( DKFZp586P1522,FLJ41181,H-L(3)MBT,KIAA0681,L3MBTL,dJ138B7.3 ) |
|---|---|
| Gene Full Name: | l(3)mbt-like 1 (Drosophila) |
| Band: | 20q13.12 |
| Quick Links | Entrez ID:26013; OMIM: 608802; Uniprot ID:LMBL1_HUMAN; ENSEMBL ID: ENSG00000185513; HGNC ID: 15905 |
| 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 | 1 | 2 | 0 | 0 | 1 | 4 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 42169759 | T | G | c.2514T>G | p.Ser838Arg | Sanger sequencing | deleterious | 0.3042 | Sanders SJ, 2012 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 20 | 42169759 | T | G | mosaic | PASM | Dou Y, 2017 |
| 20 | 42169759 | T | G | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000147 | 20q11.21-13.12 | 20 | - | - | 5.56 | - | Allen-Brady, 2008 |