Variant Details for LOC348840
Basic Information Top
| Gene Symbol: | LOC348840 ( - ) |
|---|---|
| Gene Full Name: | - |
| Band: | 3q29 |
| Quick Links | Entrez ID:348840; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: |
| 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 | 6 | 0 | 0 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002471 | 3 | 3q29 | 197775758 | 197891716 | 115958 | gain | external link | Pinto, 2010 |
| AutCNV0002470 | 3 | 3q29 | 197709888 | 197918149 | 208261 | gain | external link | Pinto, 2010 |
| AutCNV0002469 | 3 | 3q29 | 197567661 | 197918149 | 350488 | gain | external link | Pinto, 2010 |
| AutCNV0002468 | 3 | 3q29 | 197567661 | 197864463 | 296802 | gain | external link | Pinto, 2010 |
| AutCNV0001692 | 3 | 3q29 | 197710519 | 197838262 | 127743 | gain | external link | Pinto, 2010 |
| AutCNV0000919 | 3 | 3q29 | 197567661 | 197918149 | 350488 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000048 | 3q29 | 3 | D3S2418 | 2.45 | - | - | Risch, 1999 |