Variant Details for MANSC1
Basic Information Top
| Gene Symbol: | MANSC1 ( 9130403P13Rik,FLJ10298,LOH12CR3 ) |
|---|---|
| Gene Full Name: | MANSC domain containing 1 |
| Band: | 12p13.2 |
| Quick Links | Entrez ID:54682; OMIM: NA; Uniprot ID:MANS1_HUMAN; ENSEMBL ID: ENSG00000111261; HGNC ID: 25505 |
| 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 | 5 | 0 | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 12483385 | G | A | c.872C>T | p.Ala291Val | Sanger sequencing | neutral | 0.0247 | Neale BM, 2012 |
| 12 | 12483027 | T | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 12 | 12483385 | G | A | Sanger sequencing | neutral | 0.0247 | De Rubeis S, 2014 | ||
| 12 | 12483250 | T | C | PCR or Sanger sequencing | neutral | 0.05 | Iossifov I, 2014 | ||
| 12 | 12483027 | T | C | 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! | |||||||