Variant Details for CLN3
Basic Information Top
| Gene Symbol: | CLN3 ( BTS,JNCL,MGC102840 ) |
|---|---|
| Gene Full Name: | ceroid-lipofuscinosis, neuronal 3 |
| Band: | 16p12.1 |
| Quick Links | Entrez ID:1201; OMIM: 607042; Uniprot ID:CLN3_HUMAN; ENSEMBL ID: ENSG00000188603; HGNC ID: 2074 |
| 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 | 8 | 0 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000260 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Finelli, 2004 |
| AutCNV0000186 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
| AutCNV0000152 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
| AutCNV0000018 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | loss | external link | Weiss, 2008 |
| AutCNV0000017 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Weiss, 2008 |
| AutCNV0000370 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
| AutCNV0000369 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
| AutCNV0004826 | 16 | 16p12.2p11.2 | 21306156 | 29053253 | 7747097 | loss | external link | Okamoto N, 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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! | |||||||